hpo 0.12.0

Human Phenotype Ontology Similarity
Documentation
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�+�Pili torti, early-onsetKhb7Diverticulosis of bowel, hernia, and retinal detachment`bJLPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathyA	p�-Epileptic encephalopathy, early infantile, 83B	u&.Developmental and epileptic encephalopathy 101@,Growth hormone deficiency, isolated, type IAb	c�NHypotonia, infantile, with psychomotor retardation and characteristic facies 1N	tW:Heterotaxy, visceral, 10, autosomal, with male infertilityQ	o�=Brain abnormalities, neurodegeneration, and dysosteosclerosisO	o7;Intellectual developmental disorder, autosomal recessive 67&	c�Immunodeficiency 8+	Q'Retinitis pigmentosa 36.(]Hemifacial spasm, familial�U#ASpinal muscular atrophy with microcephaly and mental subnormality.��Microphthalmia, isolated 1/	e,Premature ovarian failure 9,	lhSpermatogenic failure 182	B+Ciliary dyskinesia, primary, 2(88Blue diaper syndromet	nr\Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
�;	R'Fanconi anemia, complementation group NU	i;ALeukodystrophy and acquired microcephaly with or without dystonia`��LLeukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis&ʴAlpha-mannosidosis2	b�Lymphoproliferative syndrome 2$	K�Bruck syndrome 2X	o�DGastrointestinal ulceration, recurrent, with dysfunctional plateletsj;�VCamptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases1|�Hyaline fibromatosis syndrome+	bNUsher syndrome, type IKD;40Spondylocostal dysostosis, autosomal recessive 1=�t)Dihydrolipoamide dehydrogenase deficiency0	u�Premature ovarian failure 20'	mcImmunodeficiency 554	n Deafness, autosomal recessive 57t	jn\Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
�=<�)Cardioauditory syndrome of sanchez cascosF	n�2Mitochondrial complex I deficiency, nuclear type 78<$Camptomelic syndrome, Long-Limb type.��Marinesco-Sjogren syndromeI��5Parkinson disease 15, autosomal recessive early-onsetL	t!8Deafness, autosomal recessive 118, with cochlear aplasia<��(Hyperbilirubinemia, conjugated, type IIIu��aAutoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasiaT	k@Lung disease, immunodeficiency, and chromosome breakage syndrome;	.'Trichoepithelioma, multiple familial, 1
�L��8Basal ganglia calcification, idiopathic, childhood-onsetk	Y�WSeizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalanceP	7d<Megalencephalic leukoencephalopathy with subcortical cysts 12�Achalasia, familial esophageal<	`%(Cutis laxa, autosomal recessive, type IB.�|Nijmegen breakage syndrome'�fNeuropathy, painfulU	8qAMitochondrial complex V (ATP synthase) deficiency, nuclear type 1I/<5Ataxia with myoclonic epilepsy and presenile dementia'	eNImmunodeficiency 22G	E�3Charcot-Marie-Tooth disease, demyelinating, type 1F$	q�HarderoporphyriaA	d�-Congenital disorder of glycosylation, type IwE��-Hypermetabolism due to defect in mitochondria�:	/�&Ectodermal dysplasia 4, Hair/nail typeq	h[]Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delayP	j3<Macrocephaly, dysmorphic facies, and psychomotor retardationK$�7Spondyloepiphyseal dysplasia tarda, autosomal recessiveV	g�BPulmonary fibrosis and/or bone marrow failure, telomere-related, 3
�5S�!Apparent mineralocorticoid excess8	c�$Renal-Hepatic-Pancreatic dysplasia 2F	u	2Epidermolysis bullosa, junctional 3A, intermediate;	l~'Mosaic variegated aneuploidy syndrome 3f/RThumb, hypoplastic, with choroid coloboma, poorly developed antihelix,and deafness �HISTIDINEMIA7	f�#Pontocerebellar hypoplasia, type 1C,	D�Bartter syndrome, type 30	f!Alpha-Fetoprotein deficiencyH	>�43-Hydroxy-3-Methylglutaryl-Coa synthase-2 deficiency]	sEINeurodevelopmental disorder with cerebellar atrophy and motor dysfunctionC	Ri/Surfactant metabolism dysfunction, pulmonary, 34	` Deafness, autosomal recessive 96D	�(Pseudovaginal perineoscrotal hypospadias2�1�$Pericardial effusion, chronic(	Y�Cone-Rod dystrophy 94	N� Deafness, autosomal recessive 51]	isICorpus callosum, agenesis of, with facial anomalies and cerebellar ataxia0	j�Sedoheptulokinase deficiency&'lGillespie syndrome(	f�Ovarian dysgenesis 4<	]�(Cardiomyopathy, familial hypertrophic, 9
�&�Haim-Munk syndrome1ȎLysine malabsorption syndrome8?$Celiac disease, susceptibility to, 1+	]�Meckel syndrome, type 8N�:Short-rib thoracic dysplasia 9 with or without polydactylyC�/Alpha-aminoadipic and alpha-ketoadipic aciduria1ˊDystonia 3, torsion, X-linked
�1	c�Leber congenital amaurosis 17%�0Lambotte syndromeF.Congenital disorder of glycosylation, type IIc�A	p4-Epileptic encephalopathy, early infantile, 77=	Z�)Hypotrichosis and recurrent skin vesicles!��
Vici syndrome6�"Ceroid lipofuscinosis, neuronal, 2B	s}.Spinocerebellar ataxia, autosomal recessive 29$(8Filippi syndromeb	]�NMyopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-relatedB	_�.Spinocerebellar ataxia, autosomal recessive 12_	KPseudopapilledema, ocular hypotelorism, blepharophimosis, and handanomalies;	<J'Immunodeficiency with hyper-igm, type 26br"Dermatoosteolysis, Kirghizian type0	9yLeber congenital amaurosis 55	p�!Rothmund-thomson syndrome, type 1"	K�MYOTILINOPATHY
�.u�Kohlschutter-Tonz syndrome0	/�Hypomagnesemia 1, intestinal3	<�Nemaline myopathy 5, Amish type6"z"Spherocytosis, autosomal recessive)	ffNeu-Laxova syndrome 2$��Elejalde disease3	X�Ciliary dyskinesia, primary, 10EX1Corneal opacification with other ocular anomalies3	J*Myopathy, myofibrillar, 2, mfm2
�)	e�Pancreatic agenesis 2'	a�Nephronophthisis 14B	lf.Ichthyosis, congenital, autosomal recessive 13Q�=Hypertrophic osteoarthropathy, primary, autosomal recessive 1D	c�0Combined oxidative phosphorylation deficiency 16q	n�]Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development7	h.#Leukodystrophy, hypomyelinating, 11G	K	3Ataxia, posterior column, with retinitis pigmentosaH	d4Mitochondrial complex III deficiency, nuclear type 6B	v.Developmental and epileptic encephalopathy 107)�tSpherocytosis, type 1A	o�-Epileptic encephalopathy, early infantile, 753~�Formiminotransferase deficiency,	tAnemia, sideroblastic, 5S	b�?Retinal dystrophy, iris coloboma, and comedogenic acne syndrome(�Retinitis pigmentosa/	vNephrotic syndrome, type 26-�tAngioedema, hereditary, 1+	q�Pseudo-Torch syndrome 3]	otINeurodevelopmental disorder with central and peripheral motor dysfunction\�x@Intrinsic factor and R binder, combined congenital deficiency of��?�T+Klippel-Feil syndrome 1, autosomal dominant�K�7Seizures, benign familial neonatal, autosomal recessive>�*Oral and digital anomalies with ichthyosis>	W�*Spastic paraplegia 35, autosomal recessive/	t�Cardiomyopathy, dilated, 2FC	`�/Combined oxidative phosphorylation deficiency 99	k%Preimplantation embryonic lethality 2C�/Leukodystrophy, adult-onset, autosomal dominant
�+�AREDYLD<	-(Aprosencephaly and cerebellar dysgenesis&�NHolzgreve syndrome3%Brachyolmia type 1, Toledo type.	iLOocyte maturation defect 2(�Fundus albipunctatusA	k<-Developmental and epileptic encephalopathy 48#	s�WHIM syndrome 26��"SPERMATOGENIC FAILURE, X-LINKED, 2�B	Q[.Xeroderma pigmentosum, complementation group B<	][(Muscular dystrophy, limb-girdle, type 2QE�:1Succinyl CoA:3-oxoacid CoA transferase deficiency&��Urofacial syndrome)€Letterer-Siwe disease?	kJ+Epilepsy, early-onset, vitamin b6-dependent.�]Gaucher disease, type IIIC4	J� Atrial fibrillation, familial, 2
�`	i�LDevelopmental delay with short stature, dysmorphic features, and sparse hair/�,Orofaciodigital syndrome IV. @Smith-Lemli-Opitz syndrome'�Neu-Laxova syndrome/|Prepapillary vascular loops4� Wiedemann-Rautenstrauch syndrome7	m�#Leukodystrophy, hypomyelinating, 14=f�)Sucrase-isomaltase deficiency, congenital'	snImmunodeficiency 813	`Systemic lupus erythematosus 16,	tASpermatogenic failure 58<��(Aldosteronism, glucocorticoid-remediable
�]H�IChondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndromeP� <Vertebral fusion, posterior lumbosacral, with blepharoptosis�/	r�Nephrotic syndrome, type 22;��'Myotonia congenita, autosomal recessive�0r}Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus,photomyoclonus, and degenerative neurologic disease+5�Biemond syndrome II2R	W�>Thrombophilia due to protein C deficiency, autosomal recessiveX	`�@Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
�6	tN"Rhizomelic dysplasia, Ain-Naz typeV	[;BImmunodeficiency due to purine nucleoside phosphorylase deficiencyp	h\Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2)�Sick sinus syndrome 2
�9	g�%Trichothiodystrophy 2, photosensitive?�\+Metaphyseal dysplasia without hypotrichosist	o�`Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression>�*Autoimmune polyendocrine syndrome, type IIJ��6Muscular dystrophy, congenital, with rapid progressionK	M7Mitochondrial DNA depletion syndrome 2 (myopathic type)R	i�>Microcephaly, congenital cataract, and psoriasiform dermatitis=	n�)Neuropathy, congenital hypomyelinating, 3=N�)Coloboma of macula and skeletal anomalies6	.�"Spondylospinal thoracic dysostosisB@�.Xeroderma pigmentosum, complementation group A(	Z4Zechi-Ceide syndrome4	W� Diabetes mellitus, ketosis-prone,	ufSpermatogenic failure 735\!Albinism, oculocutaneous, type IAe	j�QShort stature, brachydactyly, intellectual developmental disability, and seizuresDl�0Dyssegmental dysplasia, Silverman-Handmaker typeX	E�DIchthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis5vT!Epiphyseal dysplasia, multiple, 4=P0)Nail disorder, nonsyndromic congenital, 3;�'Pyruvate kinase deficiency of red cells8	fb$2,4-Dienoyl-Coa reductase deficiency6�Neurofaciodigitorenal syndrome�o	L[Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
�0	jZHermansky-Pudlak syndrome 10Iƚ1Lymphoblastic transformation, intrinsic defect in�5�:!Pulmonary venoocclusive disease 2A	s�-Congenital disorder of glycosylation, type 2VT	rB@Cleft palate, proliferative retinopathy, and developmental delayX	(:DMale pseudohermaphroditism/mental retardation syndrome, Verloes typeE	h'1Epidermolysis bullosa simplex with nail dystrophy0	rWSpermatogenic failure 46
�'xNemaline myopathy 3'	d�Immunodeficiency 154	IG Atrial fibrillation, familial, 1
�*'Sugarman brachydactylyA	l-Epileptic encephalopathy, early infantile, 55+	]�Retinitis pigmentosa 39�q�qEncephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degenerationC��/Ciliary dyskinesia with defective radial spokesrw�^Factor V and factor VIII, combined deficiency of, with normal proteinc and protein C inhibitor.kDysautonomia-Like disorder,	oeSpermatogenic failure 35>�*Retinitis pigmentosa inversa with deafness/	n�Nephrotic syndrome, type 18.	oqOocyte maturation defect 6#�(Lissencephaly 2e	udQNeurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizuresH	s[4Mitochondrial complex IV deficiency, nuclear type 22%�GalactosialidosisD	hv0Spondylocostal dysostosis 6, autosomal recessive-	 Pseudotrisomy 13 syndrome�	,RqMuscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibersF@�.Xeroderma pigmentosum, complementation group F�u	]aInfections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformationsB	l�.Multiple mitochondrial dysfunctions syndrome 5O�X;Ichthyosis, hepatosplenomegaly, and cerebellar degenerationf��RGranulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type IH�f4Abnormal hair, joint laxity, and developmental delay%	a�Seckel syndrome 7K?h3Cerebellar ataxia and hypogonadotropic hypogonadism�(	n�Ovarian dysgenesis 7D	o�0Combined oxidative phosphorylation deficiency 38A	`k-Congenital disorder of glycosylation, type IR#WxFraser syndrome0	fPoretti-Boltshauser syndromeA	?2-Spinocerebellar ataxia, autosomal recessive 1B	i}.Congenital disorder of glycosylation, type IIP$(Escobar syndrome'	d�Immunodeficiency 18MT5Neuropathy, hereditary sensory and autonomic, type II�5�V!Albinism, oculocutaneous, type VI4	c4 Osteogenesis imperfecta, type XV0s�Myopia 2, autosomal dominant�H	-4Lethal short-limb skeletal dysplasia, al Gazali typeB�p.Spinal and bulbar muscular atrophy, X-linked 1
�*U�Baller-Gerold syndrome4	R� Osteogenesis imperfecta, type XI)�FNuchal bleb, familial=	t�)Brunet-Wagner neurodevelopmental syndromeN	t:Dyskinesia with orofacial involvement, autosomal recessive	n�
Diarrhea 9U	f�ARetinal dystrophy, juvenile cataracts, and short stature syndrome,	nfSpermatogenic failure 28'	e�Immunodeficiency 23?�+Acrofacial dysostosis syndrome of rodriguez+Meckel syndrome, type 7e	t�QNeurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis*Y�Cystic disease of lung+	n�Usher syndrome, type IVO	c�;Multiple congenital anomalies-hypotonia-seizures syndrome 3)8�Tyrosinemia, type III'	e�Nephronophthisis 183�Mucopolysaccharidosis type IIICA	f�-Microcephaly 12, primary, autosomal recessive0	,�Odontomicronychial dysplasia,�DMyopathy, congenital�=	Z�)Pituitary hormone deficiency, combined, 1/	T�Cataract 17, multiple typesR	g�>Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
�H	b�4Mitochondrial complex III deficiency, nuclear type 5D{�0Hypogonadotropic hypogonadism 23 without anosmia^	s�JCentral hypoventilation syndrome, congenital, 2, and autonomic dysfunction/v"EPILEPSY-TELANGIECTASIA�V	oTBCongenital disorder of glycosylation with defective fucosylation 2H	lK4Retinal dystrophy with or without macular staphyloma,	e�Spermatogenic failure 13:	K&Spondylometaphyseal dysplasia, type A4/	\2Cardiomyopathy, dilated, 1S
�-�~Echo virus 11 sensitivity
�D��0Neurodegeneration with brain iron accumulation 1A	m�-Microcephaly 21, primary, autosomal recessive>	e*Spastic paraplegia 61, autosomal recessive0	bbAicardi-Goutieres syndrome 61	_*Leber congenital amaurosis 167/"Thymic aplasia with fetal death2'	g�Immunodeficiency 39H	pf4Spastic tetraplegia and axial hypotonia, progressiveB	`�.Ehlers-Danlos syndrome, kyphoscoliotic type, 27	lD#Pituitary adenoma 5, multiple types
�F	L-2Epiphyseal dysplasia, multiple, with miniepiphyses0	N�Pitt-Hopkins-Like syndrome 1=u)Nail disorder, nonsyndromic congenital, 1(�1Hypomelanosis of ito�8	tp$Immunodeficiency 89 and autoimmunity-	mGalloway-Mowat syndrome 4=	-�)Agammaglobulinemia 1, autosomal recessiveX$�DSpondylocostal dysostosis with anal atresia and urogenital anomalies3I�Circumvallate placenta syndromef	RRPseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency_	2bKDistal renal tubular acidosis 3, with or without sensorineural hearing lossG	mX3Glycosylphosphatidylinositol biosynthesis defect 16D�j0Indolylacroyl glycinuria with mental retardation�	o�lHypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalitiesP��<Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)/	i�Nephrotic syndrome, type 127	s&#Pontocerebellar hypoplasia, type 159	h%Basel-Vanagaite-Smirin-Yosef syndrome>	h*Mental retardation, autosomal recessive 503�gMetaphyseal acroscyphodysplasiaDh�0Orthostatic hypotension 1, due to DBH deficiency+	.vRetinitis pigmentosa 19D	.�0Cholestasis, progressive familial intrahepatic 2#:Buerger diseaseFl.Pseudohermaphroditism, male, with gynecomastia�3E�Zunich neuroectodermal syndromeAk�-Dyskeratosis congenita, autosomal recessive 13	o�Hydatidiform mole, recurrent, 4A	v-Microcephaly 29, primary, autosomal recessive-Glomuvenous malformations�#�Oliver syndrome)	Y1Cone-rod dystrophy 12U	pACerebellar atrophy with seizures and variable developmental delayX�jDPeripheral neuropathy, ataxia, focal necrotizing encephalopathy, and+	ZRHadziselimovic syndromeA	1�-Spondyloepimetaphyseal dysplasia, Shohat type7	N#Bleeding disorder, platelet-type, 8,	J�Cd8 deficiency, familialF;�2Tumoral calcinosis, hyperphosphatemic, familial, 1@	_u,Microcephaly-Capillary malformation syndrome`	oLNeurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination8	Q�$Cerebrooculofacioskeletal syndrome 4F	`I2Arterial calcification, generalized, of infancy, 26	Dm"Focal cortical dysplasia of taylor
�8	-�$Charcot-Marie-Tooth disease, type 4CK	e�7Microphthalmia/coloboma and skeletal dysplasia syndrome1	YhLeber congenital amaurosis 134	N� Deafness, autosomal recessive 55/	q�Proteinuria, chronic benign,	e�Spermatogenic failure 147��#Kaufman oculocerebrofacial syndromeB	i.Congenital disorder of glycosylation, type IIN3	]0Beaulieu-Boycott-Innes syndrome;�'Hyperphenylalaninemia, BH4-deficient, A+͎Megaepiphyseal dwarfismJ	j66Neutropenia, severe congenital, 7, autosomal recessive+	]�Retinitis pigmentosa 59<	c�(Muscular dystrophy, limb-girdle, type 2R9	s�%Diarrhea 12, with microvillus atrophy:<}&Cardiac valvular defect, developmentalL	`98Ichthyosis, spastic quadriplegia, and mental retardationG	n�3Glycosylphosphatidylinositol biosynthesis defect 18"��Perry syndrome
�4�� Ichthyosis and male hypogonadism�7	t#Pontocerebellar hypoplasia, type 16<�(Muscular dystrophy, limb-girdle, type 2C7	h�#Leukodystrophy, hypomyelinating, 12.�Immunoglobulin M, level of
�:	;]&Myoclonic epilepsy, familial infantile'	r�Joubert syndrome 37H<c0Congenital disorder of glycosylation, type I/IIx�+	]�Retinitis pigmentosa 431	E3Camptosynpolydactyly, complexG)�3Antithrombin, familial hemorrhagic diathesis due to#^wMEDULLOBLASTOMA5�!Albinism, oculocutaneous, type IIB<�.Carnitine-acylcarnitine translocase deficiency!	M
C5 deficiency;<�'Whistling face syndrome, recessive form6��"Hyperbilirubinemia, shunt, primaryV	k�BArthrogryposis multiplex congenita, neurogenic, with myelin defectW	ogCPolymicrogyria with or without vascular-type ehlers-danlos syndrome;	u~'Hepatorenocardiac degenerative fibrosisJ	_v6Arthrogryposis, perthes disease, and upward gaze palsy4	[�Miyoshi muscular dystrophy 3
�?�"+Amyloidosis, primary localized cutaneous, 1
�;	f,'Lipodystrophy, familial partial, type 66	K-"Pancreatic and cerebellar agenesis+	/�Usher syndrome, type IE;	t�'Yoon-Bellen neurodevelopmental syndrome ��AMME complex
�'J0Cirrhosis, familial+	?xRippling muscle disease
�/	l�Polycystic kidney disease 5apMEhlers-Danlos syndrome with platelet dysfunction from fibronectin abnormalityN	gU:Mitochondrial short-chain enoyl-coa hydratase 1 deficiencyN:Alopecia-Contractures-Dwarfism mental retardation syndrome$Roberts syndrome3	dCiliary dyskinesia, primary, 226	i8"Woolly hair, autosomal recessive 3+	d�Retinitis pigmentosa 67B	g�.Multiple mitochondrial dysfunctions syndrome 4<	t�(Parkinsonism-dystonia 3, childhood-onsetk	QTWPalmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal;	cF'Lipodystrophy, familial partial, type 5E	i�1Spasticity, childhood-onset, with hyperglycinemiaEW�1ACTH-independent macronodular adrenal hyperplasia
�(�tProlidase deficiencyM��9Hypouricemia, hypercalcinuria, and decreased bone densityo	q8[Intellectual developmental disorder with poor growth and with or without seizures or ataxia^	m�JNeurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy7	l�#Myopathy, mitochondrial, and ataxia&	e�Orofacial cleft 14;	K'Fanconi anemia, complementation group J'	tnImmunodeficiency 88j	gzVMyasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency4	X� Amyotrophic lateral sclerosis 11
�L	a�8Hypogonadotropic hypogonadism 10 with or without anosmia_n�KEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive:l	VALINEMIA�	o`}Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency+	Z�Spermatogenic failure 70�Niemann-Pick disease, type A54!Bare lymphocyte syndrome, type II8	e�$Bleeding disorder, platelet-type, 18A	b�-Congenital disorder of glycosylation, type Iuq	p~]Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies'	eAAtrial standstill 22pSplit-Hand/foot malformation 6��`nMultiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects<	i�(Diarrhea 8, secretory sodium, congenital.�Leprosy, susceptibility to
�<	t�(Trichothiodystrophy 8, nonphotosensitive;	pG'Mitochondrial DNA depletion syndrome 17# |Sonoda syndromeV	s�BDevelopmental delay, impaired speech, and behavioral abnormalities�;	p!'Robinow syndrome, autosomal recessive 2J	cu6Neutropenia, severe congenital, 5, autosomal recessive,	u4Spermatogenic failure 70�pFUCOSIDOSIS7	e{#Pontocerebellar hypoplasia, type 104	k� Sclerosing cholangitis, neonatalK	dM7Molybdenum cofactor deficiency, complementation group C"��Meleda disease;(L'Spondylocarpotarsal synostosis syndrome4	+� Glaucoma 3, primary infantile, B;	k'Fanconi anemia, complementation group V,e�Dibasic amino aciduria I2	j\Bone marrow failure syndrome 3"j*NONDISJUNCTION"	)5CODAS syndrome&	O�Joubert syndrome 51�DHemangiopericytoma, malignantF	v2Bone marrow failure and diabetes mellitus syndrome3	D�Newfoundland rod-cone dystrophy8	g$Focal segmental glomerulosclerosis 9E5-3-Methylcrotonyl-CoA carboxylase 1 deficiency
�c��OMacroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance>	d�*Spastic paraplegia 72, autosomal recessive0	rRitscher-Schinzel syndrome 33	_�Hydatidiform mole, recurrent, 2B@�.Xeroderma pigmentosum, complementation group E-�Pituitary dwarfism IV�#��Jejunal atresiao	L[Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
�1	q�Imerslund-Grasbeck syndrome 2K��7Molybdenum cofactor deficiency, complementation group AE��1Anemia, sideroblastic, and spinocerebellar ataxia�A	m�-Epileptic encephalopathy, early infantile, 60=	kx)Nemaline myopathy 11, autosomal recessive6#"Acrocephalopolydactylous dysplasia'	t�Immunodeficiency 92\	H�HCraniosynostosis, calcification of basal ganglia, and facial dysmorphism?	rw+Mandibuloacral dysplasia progeroid syndrome)G�Cholesterol pneumoniaS	7�?Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
�K	h�7Epilepsy, hearing loss, and mental retardation syndrome@	:�,Microcephaly 3, primary, autosomal recessiveJ�j6Hemolytic anemia with thermal sensitivity of red cells���mImmunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes)	tCone-rod dystrophy 224	b2 Leptin deficiency or dysfunction5	r]!Mismatch repair cancer syndrome 49�G%3-@methylglutaconic aciduria, type IVJ	fV6Neutropenia, severe congenital, 6, autosomal recessive0/@Thyrocerebroretinal syndromeA	h�-Microcephaly 16, primary, autosomal recessive9	eW%Immunodeficiency, common variable, 113	j�Thauvin-Robinet-Faivre syndromeX	i�DImmunodeficiency-centromeric instability-facial anomalies syndrome 4-	u�Braddock-Carey syndrome 2=	_)Nail disorder, nonsyndromic congenital, 9G	o3Mitochondrial complex I deficiency, nuclear type 25I	HT5Charcot-Marie-Tooth disease, recessive intermediate A/	i�Nephrotic syndrome, type 13A	a�-Peroxisome biogenesis disorder 3A (Zellweger),	u2Spermatogenic failure 694	>z Deafness, autosomal recessive 277:#Renal and mullerian duct hypoplasia9	f�%Polyendocrine-Polyneuropathy syndromeI	J�5Spondylometaphyseal dysplasia with cone-rod dystrophy7-#Fetal akinesia deformation sequence\	sHNeurodevelopmental disorder with dysmorphic facies and variable seizuresO	nw;Intellectual developmental disorder, autosomal recessive 64,	C�Microcephaly, Amish typeL	@t4Parkinson disease 7, autosomal recessive early-onset
�D	t�0Hypogonadotropic hypogonadism 27 without anosmiaG	o3Mitochondrial complex I deficiency, nuclear type 26&	].Brachyolmia type 2/�Progesterone resistance�dLAntley-Bixler syndrome with genital anomalies and disordered steroidogenesis2G	o3Mitochondrial complex I deficiency, nuclear type 19a	vMNeurodevelopmental disorder with microcephaly, hypotonia, and absent language2s5Myopathy, tubular aggregate, 1
�.	_4Nephrotic syndrome, type 6H	\4Arthrogryposis, renal dysfunction, and cholestasis 2-	[�Roifman-Chitayat syndrome3	^�Ciliary dyskinesia, primary, 166�"Ceroid lipofuscinosis, neuronal, 38	k�$Bleeding disorder, platelet-type, 21k	swWNeurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities?	^�+Immunoglobulin kappa light chain deficiency%h�Dubowitz syndromed�PAlaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitusF	n�2Mitochondrial complex I deficiency, nuclear type 82RSecretory component deficiencyB	jz.Congenital disorder of glycosylation, type IAAG	n�3Mitochondrial complex I deficiency, nuclear type 17-	j�Myopathy, myofibrillar, 7T��@Hypokalemic alkalosis, familial, with specific renal tubulopathy5	b !Deafness, autosomal recessive 84BH,�4Arthrogryposis, renal dysfunction, and cholestasis 1D	t�0Combined oxidative phosphorylation deficiency 543	aCiliary dyskinesia, primary, 174j Amelogenesis imperfecta, type IC-	C�Spinocerebellar ataxia 17
�J	eG6Hyperammonemia due to carbonic anhydrase VA deficiencyH	<e4Neuropathy, hereditary motor and sensory, Russe type=	q�)Immunodeficiency 72 with autoinflammationi	[UMuscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 31	m�Orofaciodigital syndrome XVIIR	iq>Microcephaly, short stature, and impaired glucose metabolism 2L�,8Metachromatic leukodystrophy due to saposin B deficiencyQ	@�=Immunodeficiency 41 with lymphoproliferation and autoimmunity*	(Macrocytosis, familial�=	/�)Amyotrophic lateral sclerosis 5, juvenileS��?Pelger-Huet-Like anomaly and episodic fever with abdominal painD	kc0Anterior segment dysgenesis 6, multiple subtypes+	\�Retinitis pigmentosa 58D1�,Thyroid hormonogenesis, genetic defect in, 5�	g�Dystonia 27>?c*Cerebellar ataxia and ectodermal dysplasia+	j?Retinitis pigmentosa 75n�`ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3]	s9IGrowth restriction, hypoplastic kidneys, alopecia, and distinctive faciesB	g�.Spinocerebellar ataxia, autosomal recessive 20(	l�Ovarian dysgenesis 59*%Gillessen-Kaesbach-Nishimura syndrome]	u9INeurodevelopmental disorder with neuromuscular and skeletal abnormalities2�HYPERLEUCINE-ISOLEUCINEMIA�A	p�-Epileptic encephalopathy, early infantile, 81=	k\)Bile acid synthesis defect, congenital, 6 �VITILIGOVTLG-	*�Gallbladder disease 1
�'	OsImmunodeficiency 259%Robinow syndrome, autosomal recessives	A�_MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5c	t�OCholestasis, progressive familial intrahepatic, 7, with or without hearing loss.E�Griscelli syndrome, type 1;	'Peroxisomal acyl-coa oxidase deficiencyHX0Interstitial pneumonitis, desquamative, familial�g	p�SIntellectual developmental disorder with short stature and behavioral abnormalitiesU�6AGyrate atrophy of choroid and retina with or without ornithinemia]��EMyasthenia, congenital, refractory to acetylcholinesterase inhibitors�!zPYGMY2�M��9Macrocephaly/megalencephaly syndrome, autosomal recessive=��%Immunoglobulin D level in plasma, low
�n	tOZEpidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive'yFactor X deficiency9�%HYPERVITAMINOSIS A, SUSCEPTIBILITY TO48x Tyrosine transaminase deficiency+��Hemochromatosis, type 1Q	p=Hyper-IgE recurrent infection syndrome 4, autosomal recessiveE	g�1Myasthenic syndrome, congenital, 3B, fast-channelH	r/4Mitochondrial complex IV deficiency, nuclear type 12+	]�Retinitis pigmentosa 38&�THeimler syndrome 1#	T0Mungan syndromeC�/Mental retardation syndrome, Mietens-Weber typeA	oo-Microcephaly 25, primary, autosomal recessive>o�*Hypothyroidism, congenital, nongoitrous, 5�C��/METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY/lAcetophenetidin sensitivity:�.&Macrosomia with microphthalmia, lethalJj�6Neuropathy, hereditary sensory and autonomic, type III1	C�Al-Gazali-Bakalinova syndrome/	V(Cardiomyopathy, dilated, 2ARV>Craniosynostosis-Mental retardation syndrome of lin and gettigC�L/Hyperbilirubinemia, familial transient neonatall TTDiarrhea 3, secretory sodium, congenital, with or without other congenital anomalies�JL$6Cleft lip/palate with abnormal thumbs and microcephaly5��!Methylmalonic aciduria, Cblb typeC٠/Motor neuropathy, peripheral, with dysautonomiaH	G�4Slowed nerve conduction velocity, autosomal dominant
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Zaki syndrome>	te*Spastic paraplegia 84, autosomal recessiveB	eX.Spinocerebellar ataxia, autosomal recessive 160	L�Goldberg-Shprintzen syndrome@	n�,Diarrhea 10, protein-losing Enteropathy typeP	VV<Immunodeficiency, ovarian dysgenesis, and pulmonary fibrosisA	o�-Charcot-Marie-Tooth disease, axonal, type 2EE,Z�Cystinosis, nephropathic,�0Bartter syndrome, type 2A	P�)THIOPURINE S-METHYLTRANSFERASE DEFICIENCY�%6�Seckel syndrome 1M	G�9Deafness, congenital neurosensory, autosomal recessive 384	2� Rigid spine muscular dystrophy 18	a+$Immunodeficiency, common variable, 74	Z
Cardiomyopathy, dilated, 1BB
�n	hZZMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9$��Mucolipidosis IV�	ZTqStargardt macular degeneration, absent or hypoplastic corpus callosum,mental retardation, and dysmorphic features,	= Usher syndrome, type IICq	L!]Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma/��Adenylosuccinase deficiency(
�CHOREOACANTHOCYTOSIS*�Sc phocomelia syndrome-	okGalloway-Mowat syndrome 6$	_^Hypotrichosis 103	j�Ciliary dyskinesia, primary, 341ìChylomicron retention diseaseL�8Amelogenesis imperfecta, type IG (enamel-renal syndrome)5��!Methylmalonic aciduria, Cbla type>H
*Chondrodysplasia calcificans metaphysealis-	9Spinocerebellar ataxia 11
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�_	-�KCardiomyopathy, dilated, 1C, with or without left ventricular noncompaction
�>	_�*Mental retardation, autosomal recessive 286~�"Focal epithelial hyperplasia, oralY	l3ENeurodevelopmental disorder with midbrain and hindbrain malformations+	t^Retinitis pigmentosa 921	-Cataract, age-related nuclearO	d�;Short-Rib thoracic dysplasia 10 with or without polydactylyX DPolycystic kidney disease 4 with or without polycystic liver disease>	_�*Mental retardation, autosomal recessive 30&	(�Fryns macrocephaly,�Achondrogenesis, type IA+��Hyperprolinemia, type IY	s�EEncephalitis, acute, infection (viral)-induced, susceptibility to, 11Ts@Adrenocortical unresponsiveness to acth with postreceptor defect;	<b'Temtamy preaxial brachydactyly syndrome/	85Chudley-Mccullough syndrome+	O�Retinitis pigmentosa 35G	n�3Mitochondrial complex I deficiency, nuclear type 160	8�Leber congenital amaurosis 4I	o5Epidermodysplasia verruciformis, susceptibility to, 30ڸMucolipidosis III alpha/betaH	r84Mitochondrial complex IV deficiency, nuclear type 202��Pruritus, hereditary localized
�<	B�(Polymicrogyria, bilateral frontoparietal$�nParagangliomas 4
�E	+G1Wiskott-Aldrich syndrome, autosomal dominant formA	m�-Epileptic encephalopathy, early infantile, 63Ct�/Epidermolysis bullosa dystrophica neurotrophica$�.Lambert syndromeO	o�;Intellectual developmental disorder, autosomal recessive 692	\�Choanal atresia and lymphedemaJ%16Spondylometaepiphyseal dysplasia, short Limb-Hand typeD	\�0Factor V and factor VIII, combined deficiency of4#. Spinal muscular atrophy, type IVD��0Marfanoid mental retardation syndrome, autosomalQ	N�=Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant�	rSmNeurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive'	j�Harel-Yoon syndromeJ	u�6Neurodevelopmental disorder with dystonia and seizures)	`|Fibrochondrogenesis 2"z4GONADOBLASTOMA�x	_�dLeukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism*J�Citrullinemia, classic\�hHMicrocephaly with chemotactic defect and transient hypogammaglobulinemia?�`+Hydrocephalus with associated malformations4	]� Deafness, autosomal recessive 61Z	o[FEncephalopathy, progressive, early-onset, with episodic rhabdomyolysis<	\v$Immunodeficiency, common variable, 4
�'	QNemaline myopathy 75�!Pulmonary alveolar microlithiasisC.�/Thrombotic thrombocytopenic purpura, hereditaryC	`�/Night blindness, congenital stationary, type 1EH	r94Mitochondrial complex IV deficiency, nuclear type 210	m�Shwachman-Diamond syndrome 2[	i�GMitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)B	Mn.Deafness, neurosensory, autosomal recessive 428	h�$Charcot-Marie-Tooth disease, type 4K:	( &Puerto rican infant hypotonia syndromeO	a�;Short stature, optic nerve atrophy, and pelger-huet anomaly&-�Thrombocytopenia 3<	c�(Lethal congenital contracture syndrome 5$�Perlman syndrome<#t(Spinal muscular atrophy, scapuloperoneal0,�Arterial tortuosity syndromeB	tv.Spondylometaphyseal dysplasia, Pagnamenta typeP	.D8Spondyloepimetaphyseal dysplasia with abnormal dentition�R�<>Homocystinuria-megaloblastic anemia, cblg Complementation type06�Tryptophanuria with dwarfism/	t{Oocyte maturation defect 11Y	q{ESeizures, early-onset, with neurodegeneration and brain calcification%	b�Cowden syndrome 5
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�=	n�)Extraoral halitosis due to MTO deficiency+�LKapur-Toriello syndrome5	b�!Osteogenesis imperfecta, type XIV?	e�+Growth hormone deficiency, isolated partial1�VRenal hypodysplasia/aplasia 1,	Y�Porphyria, acute hepatic8	Q�$Cerebrooculofacioskeletal syndrome 25�!Glutathione synthetase deficiency3	s�Ciliary dyskinesia, primary, 46A	q�-Epileptic encephalopathy, early infantile, 88/	j�Orofaciodigital syndrome XV4	r� ENDOVE syndrome, limb-brain type(fDihydropyrimidinuria5	o�!Deafness, autosomal recessive 115A	J-Congenital disorder of glycosylation, type IEB	T�*Corticosteroid-binding globulin deficiency�,	t�Spermatogenic failure 65?	<�+Cerebral palsy, ataxic, autosomal recessiveZ	[FHydrops fetalis, nonimmune, with gracile bones and dysmorphic featuresa	o{MShort stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis:�&Alopecia-Mental retardation syndrome 1.(BSyndesmodysplasic dwarfism@	i,Rhizomelic chondrodysplasia punctata, type 5Z	t8FCerebellar ataxia, brain abnormalities, and cardiac conduction defects_	bKEctodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessiveH	q�4Spondylometaphyseal dysplasia with corneal dystrophy;	5O#Citrullinemia, type II, adult-onset
�<�(Polysyndactyly with cardiac malformation,	n�Spermatogenic failure 31G	b�3Mitochondrial complex IV deficiency, nuclear type 6'	d,Immunodeficiency 123�:Lymphoid interstitial pneumonia,NAdducted thumbs syndromeA	,-Congenital disorder of glycosylation, type Id1V.Craniotelencephalic dysplasia(�PYKNOACHONDROGENESISM	m 9Myopathy, centronuclear, 6, with fiber-type disproportionA	bo-Ichthyosis, congenital, autosomal recessive 9*	n%Tetraamelia syndrome 2,�2Mandibuloacral dysplasiaA	D)Spastic paraplegia 7, autosomal recessive
�F�2Phosphoenolpyruvate carboxykinase 2, mitochondrial>	gM*Mental retardation, autosomal recessive 48/	]UTreacher collins syndrome 20	r�Premature ovarian failure 17+	(Fatal familial insomnia
�H	r-4Mitochondrial complex IV deficiency, nuclear type 10O	j�7Retinal dystrophy with or without extraocular anomalies
�CN|+Collagenosis, familial reactive perforating�'	Z�46XY sex reversal 5-�bLymphokine deficiency�Y	o�ECancer, alopecia, pigment dyscrasia, onychodystrophy, and keratodermaG,�3Arthrogryposis multiplex congenita, Neurogenic type%l,DYSOSTEOSCLEROSISS	D�?Vitamin K-dependent clotting factors, combined deficiency of, 2>	jD*Mental retardation, autosomal recessive 54A	g�-Epileptic encephalopathy, early infantile, 29.�dGM1-gangliosidosis, type I7	jB#Pontocerebellar hypoplasia, type 2FC	^�/Combined oxidative phosphorylation deficiency 8*	t�Loeys-Dietz syndrome 6
�?��+Pilodental dysplasia with refractive errors+�@Polydactyly, preaxial IJ	N�2Systemic lupus erythematosus, susceptibility to, 6�
�R	+�>Aplasia cutis congenita, high myopia, and cone-rod dysfunction@�,Alpha-Ketoglutarate dehydrogenase deficiencyA�)Myopathy with giant abnormal mitochondria�N:Retinal dystrophy, reticular pigmentary, of posterior pole; F'Corneal dystrophy, gelatinous drop-like?��+Hypogonadism, primary, and partial alopeciaB	I�.Aromatic L-amino acid decarboxylase deficiency;	q�'Mitochondrial DNA depletion syndrome 193	+�Deafness, autosomal recessive 6:	L�&Acromesomelic dysplasia, Demirhan type,	ssSpermatogenic failure 549	u�%Immunodeficiency 105, severe combinedG	d
3Retinitis pigmentosa with or without situs inversusL	J�8Bifid nose with or without anorectal and renal anomalies:	*�&Dwarfism, familial, with muscle spasms=�%Platelet prostacyclin receptor defect�D	b#0Combined oxidative phosphorylation deficiency 158�~$Osteopetrosis, autosomal recessive 26	J$"Leukodystrophy, hypomyelinating, 2m	["YMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6B	q0.Spinocerebellar ataxia, autosomal recessive 28!	f@
Analbuminemia8��$Bleeding disorder, platelet-type, 17(��Peters-Plus syndrome:3("Tinea imbricata, susceptibility to�Op�;Spinal muscular atrophy with progressive myoclonic epilepsy.	/�Leishmaniasis, tegumentary0�vGlycogen storage disease ixb,	f5Bardet-Biedl syndrome 12/	cmCataract 19, multiple typesr	q:^Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethalu�faMicrospherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma0	PAicardi-Goutieres syndrome 4R��>Dentin dysplasia, type I, with microdontia and misshapen teeth9	.K%Trichothiodystrophy 1, photosensitiveE	J�1Myasthenic syndrome, congenital, 1B, fast-channelJ	I�6Epilepsy, idiopathic generalized, susceptibility to, 3+	-Martinez-Frias syndrome4	3� Deafness, autosomal recessive 17n	dZVentricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness2	\rAlpha-1-Antitrypsin deficiency>	q*Spastic paraplegia 82, autosomal recessive=!,)Amyotrophic lateral sclerosis 2, juvenile/�Muscular hypertonia, lethal?6+Pituitary dwarfism with large sella turcica<�~(Lethal congenital contracture syndrome 1;	q;'Mitochondrial DNA depletion syndrome 184	p� Osteogenesis imperfecta, type XX4�Miyoshi muscular dystrophy 1
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�ABETALIPOPROTEINEMIAD	fm0Combined oxidative phosphorylation deficiency 22C	P�/Tumoral calcinosis, normophosphatemic, familial$�$Multiple myeloma
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�&	4Dermatitis, atopic�o	of[Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature*d�Diaphragmatic hernia 2[�GCarnitine palmitoyltransferase II deficiency, myopathic, stress-induced5,�!Arteriosclerosis, severe juvenile-��Parana hard-skin syndromeV	nBCongenital disorder of glycosylation with defective fucosylation 1GJ3Prader-Willi habitus, osteopenia, and camptodactyly#��PhenylketonuriaB	g.Spinocerebellar ataxia, autosomal recessive 18�	a�Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodesT	1�@Bartter syndrome, type 4A, neonatal, with sensorineural deafness,��Gaucher disease, type II'	r�Immunodeficiency 76%�lAlzheimer disease
�(v�Immunodeficiency 32B'	h�Immunodeficiency 44U�AOphthalmoplegic neuromuscular disorder with abnormal mitochondria^	lXJSpastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophyVv�BEpiphyseal dysplasia, multiple, with early-onset diabetes mellitusL�z8Hypophosphatemic rickets with hypercalciuria, hereditaryN	f�:Microcephaly and chorioretinopathy, autosomal recessive, 2=-B)Thoracic dysplasia-hydrocephalus syndrome=	.�)Phosphoglycerate dehydrogenase deficiency7�#Peroneus tertius muscle, absence of%	rHKilquist syndrome"M�Cohen syndrome]	8�IBlepharophimosis with facial and genital anomalies and mental retardation>	]�*Cataract, autosomal recessive congenital 4ENCHANDSA	pT-Epileptic encephalopathy, early infantile, 80$	c�Shaheen syndromeL	P�8Arrhythmogenic right ventricular dysplasia, familial, 11:(�&Tapetoretinal degeneration with ataxia'`Deafness and myopia.;fVitamin A metabolic defectO	n\;Neurodevelopmental disorder with spasticity and poor growthR	_D>Encephalopathy, acute, infection-induced, susceptibility to, 4+��Porphyria cutanea tardaL	\	8Autoimmune disease, multisystem, with facial dysmorphism/	c1Ataxia-Oculomotor apraxia 3?	Ic'Ribose 5-phosphate isomerase deficiency�.	O�Pachygyria, frontotemporalR	fa>Microcephaly, short stature, and impaired glucose metabolism 17	i�#Leukodystrophy, hypomyelinating, 13.	Q�Nephrotic syndrome, type 3+	RCPotocki-Lupski syndrome�4	Y� Deafness, autosomal recessive 71L+s8Aplasia cutis congenita with intestinal lymphangiectasian�~ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1C��/Myeloproliferative disease, autosomal recessive'	h�Joubert syndrome 24O	L�;Syndactyly, mesoaxial synostotic, with phalangeal reduction4�^ Microcephaly-Micromelia syndrome8�$Hypertrophic neuropathy and cataractZ	)�FIntrauterine growth retardation with increased mitomycin C sensitivityB	u�.Developmental and epileptic encephalopathy 106I	Q�5Neutropenia, severe congenital 3, autosomal recessive;�'Mosaic variegated aneuploidy syndrome 1R	o�>Encephalopathy, acute, infection-induced, susceptibility to, 9Y	DESpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1U�AAdrenal hyperplasia, congenital, due to 21-hydroxylase deficiency6	a�"Osteogenesis imperfecta, type XIIIL8Retinopathy, pericentral pigmentary, autosomal recessive;:,'Bulbar palsy, progressive, of childhood'v�Lowry-Wood syndromem	-YGrowth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction_	I�GNeuropathy, hereditary sensory and autonomic, adult-onset, with anosmia
�7	H�#Platelet glycoprotein IV deficiency,	c�Meckel syndrome, type 11D	E�0Neuronopathy, distal hereditary motor, type VIIB
�G	o3Mitochondrial complex I deficiency, nuclear type 27@	f�,Charcot-Marie-Tooth disease, axonal, type 2S7ƨ#Spatial visualization, aptitude for�R�>Sjogren-Larsson-Like ichthyosis without CNS or eye involvement_	s�KInfantile-onset multisystem neurologic, endocrine, and pancreatic disease 23�Pancreatic agenesis, congenital&�Anencephaly>	h�*Spastic paraplegia 75, autosomal recessive7	t�#Heterotaxy, visceral, 12, autosomal8	Q�$Macular degeneration, age-related, 4
�"	3�CDAGS syndromeO	j�;Short-Rib thoracic dysplasia 16 with or without polydactyly1	-KMyopathy, myofibrillar, 1
�"Z3mc syndrome 2:	>v&Citrullinemia, type II, neonatal-onset6	u"Osteogenesis imperfecta, type XXIID	t�0Dystonia, early-onset, and/or spastic paraplegia
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�-hvDohle bodies and leukemia=�)Pituitary hormone deficiency, combined, 2T��@Leukemia, acute myelocytic, with polyposis coli and colon cancer'	r�Immunodeficiency 79,	e^Oocyte maturation defect/	M�Cataract 22, multiple typesF	i�2Retinitis pigmentosa and erythrocytic microcytosisI�5Polycystic kidney, cataract, and congenital blindness>	pM*Hypothyroidism, congenital, nongoitrous, 7+	]�Meier-Gorlin syndrome 52.Short stature-obesity syndrome-��Immune deficiency disease'	gNephronophthisis 196	T�"Pontocerebellar hypoplasia, type 6:��&Hypomandibular faciocranial dysostosisH	q�4Chronic granulomatous disease 5, autosomal recessiveD��0Oculocerebral hypopigmentation syndrome of preus3	rfArthrogryposis, distal, type 1C$	KEmanuel syndrome�A	X-Congenital disorder of glycosylation, type IQ1	Q4Leber congenital amaurosis 12N%:Spondyloepiphyseal dysplasia tarda with mental retardation'	E�Immunodeficiency 67=	]�)Complement component 8 deficiency, type I*8�Bowen-Conradi syndrome+	()Retinitis pigmentosa 12O	u�;Neurodevelopmental disorder with epilepsy and brain atrophyA	g�-Microcephaly 14, primary, autosomal recessive'	n�Joubert syndrome 355<�!White forelock with malformations?	I�'Insulin-Like growth factor I deficiency�8�t$Osteopetrosis, autosomal recessive 1[	t�GCongenital heart defects, multiple types, 8, with or without heterotaxy1	8
Poikiloderma with neutropenia!�t
Paraoxonase 1�#	gaOptic atrophy 9E	jY1Cholestasis, progressive familial intrahepatic, 50	r�Hermansky-Pudlak syndrome 118	W�$Jervell and Lange-Nielsen syndrome 2.	8;Cataract 9, multiple types"WCrome syndrome>	bw*Spastic paraplegia 49, autosomal recessive1	U�Leber congenital amaurosis 10V��BBranchial myoclonus with spastic paraparesis and cerebellar ataxia
�U�LABiotinidase deficiencymultiple carboxylase deficiency, late-onsetW�(CProteasome-associated autoinflammatory syndrome 1 and digenic formsF9�2BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM3	BhGlucose/galactose malabsorption/	^�Hermansky-Pudlak syndrome 4A	c�-Microcephaly 11, primary, autosomal recessive&	W�Joubert syndrome 8H�4Popliteal pterygium syndrome, Bartsocas-Papas type 1A	G]-Congenital disorder of glycosylation, type Ij< �(Spastic ataxia, Charlevoix-Saguenay type)	G�Cone-rod dystrophy 13D	b0Combined oxidative phosphorylation deficiency 134	C} Deafness, autosomal recessive 30D	b0Combined oxidative phosphorylation deficiency 12&�Rhabdomyosarcoma 17@�#Xeroderma pigmentosum, Variant type-�2Atelosteogenesis, type IIW	]xCHYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCYJu(6Epidermolysis bullosa dystrophica, autosomal recessiveC	P�/Combined oxidative phosphorylation deficiency 3A	T�-Arrhythmogenic right ventricular dysplasia 12
�.:�Van bogaert-hozay syndrome(9�Kyphomelic dysplasia%
Ackerman syndrome<9(Bowen syndrome of multiple malformations'	h*Joubert syndrome 23>	q*Spastic paraplegia 81, autosomal recessiveh	8�TMicrocephaly 2, primary, autosomal recessive, with or without cortical malformations%	/�Trimethylaminuriao	OS[Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
�d	P�PEncephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1E	r�1Proteasome-associated autoinflammatory syndrome 4"�3mc syndrome 1G	o3Mitochondrial complex I deficiency, nuclear type 21?	j^+Striatonigral degeneration, childhood-onset'	e�Immunodeficiency 24)	c�Cone-Rod dystrophy 18"=�Wilson disease2	d�Complement factor B deficiency;	c�#Ceroid lipofuscinosis, neuronal, 13
�/	:]Cardiomyopathy, dilated, 1I
�?�v+Ichthyosis, split hairs, and amino aciduria,	u[Spermatogenic failure 72r	J�ZDrug metabolism, poor, cyp2d6-relateddrug metabolism, ultrarapid, cyp2d6-related, included�IV5Craniosynostosis-Mental retardation-clefting syndrome0	u�Dystonia 35, childhood-onset6	.�"Ceroid lipofuscinosis, neuronal, 6:	3�"Myasthenic syndrome, congenital, 5
�$�Opsismodysplasia#	1�Grange syndromeU	s;ANeurodevelopmental disorder with seizures and gingival overgrowth'	j�Joubert syndrome 274=� Lysosomal acid lipase deficiency7	_6#Myasthenic syndrome, congenital, 16"Ramon syndrome+�fSpermatogenic failure 1?ZR+Ventriculomegaly with cystic kidney diseaseP	X_<Skeletal defects, genital hypoplasia, and mental retardation>	j�*Mental retardation, autosomal recessive 57:K*&Cleft-Limb-Heart malformation syndrome/	a�Weill-Marchesani syndrome 3G	l�3Microcephaly, short stature, and limb abnormalitiesVpBEctodermal dysplasia, ectrodactyly, and macular dystrophy syndromeC	_�/Surfactant metabolism dysfunction, pulmonary, 5/	i�Lymphedema, hereditary, III>�*Multiple acyl-CoA-dehydrogenase deficiency@	u
,Epidermolysis bullosa, junctional 3B, severe8/�$Ataxia-Deafness-Retardation syndrome2	V,Ciliary dyskinesia, primary, 78	\x$Immunodeficiency, common variable, 6Vu�BEpilepsy, photogenic, with spastic diplegia and mental retardationd	Z�PEncephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 23	]�Ciliary dyskinesia, primary, 14,	lySpermatogenic failure 20D	j0Combined oxidative phosphorylation deficiency 30o	f�[Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delaym�YProgressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessiveL	a�8Hypogonadotropic hypogonadism 12 with or without anosmia/	[KWeill-Marchesani syndrome 4"	]C1q deficiencyR	lF>Gaze palsy, familial horizontal, with progressive scoliosis, 2O��7Polycystic liver disease 1 with or without kidney cysts�
�'>�Martsolf syndrome 1F	(2Vitamin D hydroxylation-deficient rickets, type 1B.�Frontofacionasal dysplasia!��
Mohr syndrome5	g%!Osteogenesis imperfecta, type XVI"]TDoors syndrome#�*Mcleod syndrome
�(�Ocular motor apraxia<y>(Fanconi anemia, complementation group D2;	h'Ullrich congenital muscular dystrophy 2=^�)Deafness, congenital, with total albinismaoMEctodermal dysplasia, hypohidrotic, with hypothyroidism and ciliarydyskinesia)�
Glutaric aciduria IIIP�P<Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)Ai>-Dwarfism, proportionate, with hip dislocation7	E�#Skin fragility-woolly hair syndrome'	\�Nephronophthisis 11S	f�?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 125	rU!Deafness, autosomal recessive 1162�Craniometadiaphyseal dysplasiaKu�7Epidermolysis bullosa, junctional, with pyloric atresia8	S�$Charcot-Marie-Tooth disease, type 4JE	Q�-Spinocerebellar ataxia, autosomal recessive 8
�I	*�5Scid, autosomal recessive, T-Negative/b-Positive typex	Z�dMyopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay6	MY"Chromosome 10Q26 deletion syndrome�8�d$Pyruvate dehydrogenase E2 deficiency;�F#3-methylglutaconic aciduria, type I
�4	[� Deafness, autosomal recessive 25D	L�0Muscular dystrophy, congenital, merosin-positive+	f-Bardet-Biedl syndrome 2=	t|)Immunodeficiency 91 and hyperinflammation1�Pulmonary hypoplasia, primaryJ	o&6Fibrosis, neurodegeneration, and cerebral angiomatosisE	O*1Pyridoxamine 5-prime-phosphate oxidase deficiencyH	F�4Spondyloenchondrodysplasia with immune dysregulationO	sW;Megacystis-microcolon-intestinal hypoperistalsis syndrome 2+	j�Peeling skin syndrome 5b	oLNIntellectual developmental disorder with cardiac defects and dysmorphic facies)�Factor XII deficiency+	]�Meier-Gorlin syndrome 4B	lc.Ichthyosis, congenital, autosomal recessive 14/	q�Suleiman-El-Hattab syndrome:�&Radial heads, posterior dislocation of+	4:Meckel syndrome, type 26	r�"Oculocutaneous albinism, type VIIIn	a�ZMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8.	^�Stickler syndrome, type IV>	.�*Hyperinsulinemic hypoglycemia, familial, 2!	X^
C6 deficiency�	r�}Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosisD	qW0Combined oxidative phosphorylation deficiency 42=	I�)Cardiomyopathy, familial hypertrophic, 10
�6��"Hyperlysinuria with hyperammonemia,	(6Warburg micro syndrome 1/�4Glycogen storage disease IV0�vOculopalatocerebral syndromeR	n�>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8)	u:Ovarian dysgenesis 10_�)GMitochondrial myopathy with A defect in mitochondrial-protein transport�0	[+GABA-transaminase deficiency'	c�Perrault syndrome 48TX$Cranial nerves, recurrent paresis ofF��2Persistent mullerian duct syndrome, types I and II5	Z�!Asphyxiating thoracic dystrophy 3'	i$Immunodeficiency 46>	h�*Spastic paraplegia 9B, autosomal recessive'	l*Immunodeficiency 52>	jV*Spastic paraplegia 77, autosomal recessivep	@\Intellectual developmental disorder with short stature, facial anomalies, and speech defects03�Transcobalamin II deficiency8E�$Charcot-Marie-Tooth disease, type 4A&	i�Even-Plus syndromek	8HWLeber congenital amaurosis-3 (LCA3)/Retinitis pigmentosa, juvenile, autosomal recessiveA	a�-Peroxisome biogenesis disorder 6A (Zellweger)A	Gh-Congenital disorder of glycosylation, type IhR	k}>Cerebroretinal microangiopathy with calcifications and cysts 24	]5 Deafness, autosomal recessive 83QI�9Ciliary discoordination due to random ciliary orientation�,9�Usher syndrome, type IIAQ	u�=Keratoderma-ichthyosis-deafness syndrome, autosomal recessive8��$LACTIC ACIDURIA DUE TO D-LACTIC ACIDI	fg5Charcot-Marie-Tooth disease, recessive intermediate D-�Knobloch syndrome, type 1G	n�3Mitochondrial complex I deficiency, nuclear type 13Ip�5Ehlers-Danlos syndrome, type VII, autosomal recessive;^'Acrorenal syndrome, autosomal recessive3	p�Ciliary dyskinesia, primary, 42,	t�Spermatogenic failure 62O	f+;Intellectual developmental disorder, autosomal recessive 452	e#Bone marrow failure syndrome 2B	,�.Ichthyosis, congenital, autosomal recessive 4A-)
Tatsumi factor deficiency/	gKAtaxia-Oculomotor apraxia 4,	l�Spermatogenic failure 21D	sz0Combined oxidative phosphorylation deficiency 52!	O6
C7 deficiencyF	n�2Mitochondrial complex I deficiency, nuclear type 4D	I�0Spondylocostal dysostosis 2, autosomal recessiveD~�0Hypogonadotropic hypogonadism 24 without anosmia@	n�,Growth hormone deficiency, isolated, type IV52!Hypercholesterolemia, familial, 16�h"Diabetes insipidus, nephrogenic, 2A:�-Vas deferens, congenital bilateral aplasia of,� Bernard-Soulier syndrome8/n$Ataxia, deafness, and cardiomyopathy4	FM Deafness, autosomal recessive 370	v#Cardiac valvular dysplasia 2#��IMINOGLYCINURIAK	h�7Seizures, cortical blindness, and microcephaly syndromeM	H�5Muscular dystrophy, limb-girdle, autosomal dominant 2�
�9	i�%Heart and brain malformation syndrome,	u7Spermatogenic failure 715	`_!Pseudohypoaldosteronism, type IID7	X&#Pontocerebellar hypoplasia, type 2C'	W�Immunodeficiency 68Z	o�FGlobal developmental delay, progressive ataxia, and elevated glutamineB	g.Fibrosis of extraocular muscles, congenital, 5Q��=Ichthyosiform erythroderma, corneal involvement, and deafnessO	d�;Short-Rib thoracic dysplasia 11 with or without polydactylyI	\�5Myopathy, lactic acidosis, and sideroblastic anemia 2bNRadioulnar synostosis, unilateral, with developmental retardationand hypotonia9ȸ%Leukocyte adhesion deficiency, type I3��Hypoplastic left heart syndrome>	`&*Cutis laxa, autosomal recessive, type IIIBA	s�-Microcephaly 28, primary, autosomal recessiver�^Amino aciduria with mental deficiency, dwarfism, muscular dystrophy,osteoporosis, and acidosisR	r�>Short stature, oligodontia, dysmorphic facies, and motor delayH;�4Methylmalonic aciduria and homocystinuria, Cbld type'	a�Immunodeficiency 295	b!!Deafness, autosomal recessive 18B7:J#Brown-Vialetto-Van laere syndrome 1Q	(=Pancreatic beta cell agenesis with neonatal diabetes mellitus9	T>%Spastic ataxia 3, autosomal recessiveA	S-Deafness, sensorineural, and male infertility"	0(Rhyns syndrome'�,Isovaleric acidemia>	G�*Spastic paraplegia 25, autosomal recessive3	b�Arthrogryposis, distal, type 5DNS�:Cortical blindness, retardation, and postaxial polydactyly-	m*Spinocerebellar ataxia 46
�@�,Plasma clot retraction factor, deficiency ofO	^�;Multiple congenital anomalies-hypotonia-seizures syndrome 1<��(Internal carotid arteries, hypoplasia of9	dh%Parkinson disease 19a, juvenile-onset7	g##Myasthenic syndrome, congenital, 15 �Pyle disease4��Magnesium, elevated red cell�(	b�Urofacial syndrome 2&	PIMevalonic aciduria;T'Lymphangiectasia, pulmonary, congenital8	t$Immunodeficiency 86, mycobacteriosis9	nZ%Epilepsy, familial adult myoclonic, 6
�B�&.Phosphoglycerate mutase, muscle, deficiency of.	rOocyte maturation defect 8"	t%SIMHA syndromeR	I�>Ciliary dyskinesia, primary, 3, with or without situs inversus#�Pyloric atresia(	7�Cone-rod dystrophy 3&	G[Joubert syndrome 27	]�#Pontocerebellar hypoplasia, type 2DGuZ3Epidermolysis bullosa, junctional, Non-Herlitz type:	[u&Glomerulosclerosis, focal segmental, 5
�1z�Fascial dystrophy, congenital>	[**Spastic paraplegia 45, autosomal recessive>	t�*Ferguson-Bonni neurodevelopmental syndromeG	r(3Mitochondrial complex IV deficiency, nuclear type 4@	aC,Adenine phosphoribosyltransferase deficiency$	<�Paragangliomas 3
�5	o�!Deafness, autosomal recessive 100D:�0Cholestasis, progressive familial intrahepatic 1A��-Ichthyosis, congenital, autosomal recessive 24	p Polydactyly, postaxial, type A10D	o+0Visual impairment and progressive phthisis bulbi\	Q�HDeafness, congenital, with inner ear agenesis, microtia, and microdontia1~tFleck retina, familial benign'�nHalothane hepatitisRU�>Craniosynostosis with anomalies of the cranial base and digitsP	s�<Inflammatory bowel disease (infantile ulcerative colitis) 31#<�Werner syndrome;	^�'Fanconi anemia, complementation group L,	_NWarburg micro syndrome 3S	D�;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
�(�lWhite sponge nevus 1�'	mJoubert syndrome 326�"Leber congenital amaurosis, type Iq	qt]Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive declineC	J�/Hemophagocytic lymphohistiocytosis, familial, 3H	^�4Chondrodysplasia with joint dislocations, Gpapp type0	k�Premature ovarian failure 13-	J�Peripheral cone dystrophy)	e�Webb-Dattani syndromeN	Y�:Brachyolmia 4 with mild epiphyseal and metaphyseal changes2�<Hyperoxaluria, primary, type I&�,Hymen, imperforate9/�%Ataxia-Microcephaly-Cataract syndrome*�:Desbuquois dysplasia 1V	g�BPulmonary fibrosis and/or bone marrow failure, telomere-related, 4
�B�.Corticosterone methyloxidase type I deficiency(�Immunodeficiency 102
��	T�pRenal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies+��Spermatogenic failure 61	uoRenal hypodysplasia/aplasia 4j	g�VMyasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency@�,Oculocerebral syndrome with hypopigmentation9�%Focal segmental glomerulosclerosis 10.��Thumbs, congenital clasped�K-f7Arthropathy, progressive pseudorheumatoid, of childhood'	g�Immunodeficiency 405	nn!Deafness, autosomal recessive 110B	J�.Mitochondrial trifunctional protein deficiencyE	K 1Salt and pepper developmental regression syndromeA	h�-Epileptic encephalopathy, early infantile, 349	o�%Fetal akinesia deformation sequence 29��%3-methylglutaconic aciduria, type III4	u] Neurocardiofaciodigital syndrome4��L-2-Hydroxyglutaric aciduria�=	`�)Infantile cerebellar-retinal degenerationAӦ)Methemoglobinemia and ambiguous genitalia�E	DU-Spinocerebellar ataxia, autosomal recessive 4
�6͘"Megalencephaly with dysmyelination-b^DERMATOLEUKODYSTROPHY�>	N�*Hyperinsulinemic hypoglycemia, familial, 4$�4Oguchi disease 1S	s�?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)'	t>Joubert syndrome 40,	?3Transaldolase deficiencyD	d�0Arthrogryposis, mental retardation, and seizures[~GAdrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency%)�Tay-Sachs diseaseZ	n�FOsteochondrodysplasia, brachydactyly, and overlapping malformed digitsUP>AContractures, congenital, torticollis, and malignant hyperthermia-	_�Stickler syndrome, type VY��EHypertrichosis, congenital anterior cervical, with peripheral sensory35�Bifid nose, autosomal recessiveH�`4Mitochondrial complex III deficiency, nuclear type 1D	r0Combined oxidative phosphorylation deficiency 506	g&"Epilepsy, progressive myoclonic, 80��Carey-Fineman-Ziter syndromeR��>Hemolytic anemia, nonspherocytic, due to hexokinase deficiency>	]�*Complement component 8 deficiency, type II5	hC!Deafness, autosomal recessive 104>!�*Spastic paraplegia 5A, autosomal recessive3	n�Polydactyly, postaxial, type A8K	h(7Neuropathy, hereditary sensory and autonomic, type VIIIC	K$/Combined oxidative phosphorylation deficiency 15h!Agenesis of cerebral white matterc&@OAnemia, nonspherocytic hemolytic, possibly due to defect in porphyrinmetabolism;	n'Ehlers-Danlos syndrome, classic-like, 2+	NyRetinitis pigmentosa 32I	_�5Hypermethioninemia due to adenosine kinase deficiencyR�H>Cutis verticis gyrata, thyroid aplasia, and mental retardation2F	Id2Mandibuloacral dysplasia with type B lipodystrophy,	l�Spermatogenic failure 223	:�Myoclonic epilepsy, juvenile, 2_	o�KNeurodevelopmental disorder with seizures and speech and walking impairment@	hi,Dyskeratosis congenita, autosomal dominant 68D�$Cerebrooculofacioskeletal syndrome 1A	rt-Developmental and epileptic encephalopathy 89K	q`7Muscular dystrophy, limb-girdle, autosomal recessive 26:	p�&Diarrhea 11, malabsorptive, congenital4	Un Dystonia with cerebellar atrophyP��<Homocystinuria due to cystathionine beta-synthase deficiency8�($Malonyl-CoA decarboxylase deficiencyD	_�0Inflammatory skin and bowel disease, neonatal, 1H	b�4Mitochondrial complex III deficiency, nuclear type 44	BA Crigler-najjar syndrome, type IIG	s�3Retinal dystrophy and microvillus inclusion disease(�HydroxykynureninuriaO	m�;Short-Rib thoracic dysplasia 19 with or without polydactylyO��;Hyper-Ige recurrent infection syndrome, autosomal recessive.	]�Blood group, cromer systemG	ds3Ehlers-Danlos syndrome, musculocontractural type, 21e�Lysinuric protein intoleranceG	o3Mitochondrial complex I deficiency, nuclear type 31G	o3Mitochondrial complex I deficiency, nuclear type 24;��'Hyperphenylalaninemia, BH4-deficient, B/�|Polycystic ovary syndrome 1�/�1Orofaciodigital syndrome IX3	q�Deafness, autosomal dominant 77
�=X@)Cutis laxa, autosomal recessive, type IIA1��Kniest-Like dysplasia, lethalI�5Prolactin deficiency with obesity and enlarged testesO�z;Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndromeD�(Polyglucosan body neuropathy, adult form�
�7	o#Pontocerebellar hypoplasia, type 120	V)Glycogen storage disease XII.��Aortic aneurysm, abdominal#	DbLathosterolosis+	S;Retinitis pigmentosa 37,	[�Hemochromatosis, type 2B>	d\*Mental retardation, autosomal recessive 38V��BImmunodeficiency-Centromeric instability-facial anomalies syndrome"7�Bloom syndromeG	mR3Glycosylphosphatidylinositol biosynthesis defect 151	g
Cerebellofaciodental syndrome.	E�Griscelli syndrome, type 25	X#!Sarcoidosis, susceptibility to, 2
�@	1!,Ectodermal dysplasia 8, Hair/tooth/nail type,	-�Stuve-Wiedemann syndrome%	BSeckel syndrome 2h	qTArthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosumI	i�5Chorea, childhood-onset, with psychomotor retardation>	b{*Spastic paraplegia 55, autosomal recessive 	^�AcatalasemiaF	s12Immunodeficiency 80 with or without cardiomyopathy6	G"Pontocerebellar hypoplasia, type 3&*�Takayasu arteritis(+hApnea, central sleep)��Myasthenia gravis2
�r4�^Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalitiesof the hands and feetB	uV.Spinocerebellar ataxia, autosomal recessive 323	B9Glut1 deficiency syndrome 1�!4P
Behr syndrome3	a�Ciliary dyskinesia, primary, 18.	\�Microphthalmia, isolated 6e	r�QNeurodevelopmental disorder with cerebral atrophy and variable facial dysmorphismp	jm\Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3[�GLimb defects, distal transverse, with mental retardation and spasticity3	d9Ciliary dyskinesia, primary, 24G	u�3Glycosylphosphatidylinositol biosynthesis defect 258	f�$Aortic aneurysm, familial thoracic 9
�`	+�LMidline malformations, multiple, with limb abnormalities and hypopituitarism4�� Fructose intolerance, hereditary4'� Anodontia of permanent dentition-�Acth deficiency, isolatedF��2Membranoproliferative glomerulonephritis, X-linked�A	4-Congenital disorder of glycosylation, type Ic6	b"Peroxisome biogenesis disorder 14B1	.�Exudative vitreoretinopathy 4Z	-	FBrachycephaly, deafness, cataract, microstomia, and mental retardation(�Reticular dysgenesiaA>�-Cataract-Ataxia-Deafness-Retardation syndromeO	^�;Intellectual developmental disorder, autosomal recessive 14_	e�KEpileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta-	^�Hepatic lipase deficiency&	gBMeckel syndrome 127	a#Pontocerebellar hypoplasia, type 1BB	c�.Multiple mitochondrial dysfunctions syndrome 39	in%Preimplantation embryonic lethality 1%	l�Fraser syndrome 3.	GDIAPHANOSPONDYLODYSOSTOSISi	j�UEncephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum:3�&Squamous cell carcinoma, head and neckO	o�;Intellectual developmental disorder, autosomal recessive 706"Albinism, oculocutaneous, type III4�| Eosinophil peroxidase deficiency+	]|Retinitis pigmentosa 49/	m^Alkuraya-Kucinskas syndromeS	qH?Basal ganglia calcification, idiopathic, 8, autosomal recessive"A�Young syndrome>	`	*Spastic paraplegia 46, autosomal recessive4� Alpha-Methylacetoacetic aciduria+	`�UV-sensitive syndrome 2b	n�NPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2C	n�/Hennekam lymphangiectasia-lymphedema syndrome 3+	eMitchell-Riley syndromeD	g0Combined oxidative phosphorylation deficiency 234�~Neutrophil actin dysfunction�H	Y4Adenylate kinase deficiency, hemolytic anemia due toF	W*2Epidermolysis bullosa simplex with pyloric atresia/�\Hypophosphatasia, infantile-v�Erythema of acral regions8.�$Renal-hepatic-pancreatic dysplasia 1d	a�PEncephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 66	^�"Epilepsy, progressive myoclonic, 6A	=�-Charcot-Marie-Tooth disease, axonal, type 2B1IQ85Corneal endothelial dystrophy and perceptive deafnessA	j-Epileptic encephalopathy, early infantile, 37Bo$.Cleft lip/palate-ectodermal dysplasia syndrome>	b�*Spastic paraplegia 43, autosomal recessive+	hRetinitis pigmentosa 72@;�,Camptodactyly syndrome, guadalajara, type IIv	q�bMyopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies^	twJNeurodevelopmental disorder with hypotonia and gross motor and seech delayL��8Tubulointerstitial kidney disease, autosomal dominant, 2
�NS�:Agenesis of the corpus callosum with peripheral neuropathyD	b
0Combined oxidative phosphorylation deficiency 116(H"Microphthalmia with limb anomalies3� Retinal arteries, tortuosity of
�e	8vQRenal tubular acidosis, proximal, with ocular abnormalities and mentalretardation6	p�"Infantile liver failure syndrome 35!Peroxisome biogenesis disorder 3B]	iIOptic atrophy 10 with or without ataxia, mental retardation, and seizures'	_Hyperbiliverdinemia1��Pfeiffer-Palm-Teller syndrome#O�Jalili syndrome5�^!Acrofrontofacionasal dysostosis 2A	[�-Spondylo-Megaepiphyseal-Metaphyseal dysplasia4� Mucopolysaccharidosis, type IIIDf	8�RCardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1B	8�*Spastic paraplegia 11, autosomal recessive
�5�!Acrofrontofacionasal dysostosis 1.o�Ectopia lentis et pupillae_	`KMicrocephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome'	c�Nemaline myopathy 8C	5�/Hemophagocytic lymphohistiocytosis, familial, 2'	bPerrault syndrome 2+	8ZHemochromatosis, type 3$	p�Sitosterolemia 2&	?fPropionic acidemia;.P'Thrombocytopenia-absent radius syndromeO	m-;Intellectual developmental disorder, autosomal recessive 61$ȊSneddon syndromeR�R>Osteogenesis imperfecta congenita, microcephaly, and cataracts6	:�"Muscular dystrophy, congenital, 1BF	ip2Hypotonia, infantile, with psychomotor retardation0	]�Leber congenital amaurosis 7R�b>Ichthyosis, mental retardation, dwarfism, and renal impairment3	+�Deafness, autosomal recessive 9-	P�Gaucher disease, atypical$3Tibial hemimeliaC	\/Microcephaly, seizures, and developmental delay@	qb,Hypervalinemia or hyperleucine-isoleucinemia%
Pulmonic stenosis+	</Bardet-Biedl syndrome 6o	c�[MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14H	a�4Methylmalonic aciduria and homocystinuria, Cblj typeD	k0Myasthenic syndrome, congenital, 21, presynaptic0	nPremature ovarian failure 14,
`Pseudoxanthoma elasticum;	g�'Fanconi anemia, complementation group T,	p�Spermatogenic failure 434	G� Nablus mask-like facial syndrome,	rVSpermatogenic failure 45#	-�Ribbing disease6g�"Disorganization, mouse, homolog of_	nqKMicrocephaly, growth restriction, and increased sister chromatid exchange 2.��5-@oxoprolinase deficiency>	]*Spastic paraplegia 48, autosomal recessiveK	a�7Hypogonadotropic hypogonadism 8 with or without anosmia;	o'Trichohepatoneurodevelopmental syndromeZS|FCorpus callosum, agenesis of, with facial anomalies and Robin sequence%�
Hooft disease�,	r$Spermatogenic failure 446	Q�"Epiphyseal dysplasia, Baumann type2	I�Ciliary dyskinesia, primary, 5-3�Oliver-Mcfarlane syndrome-ȶMacdermot-Winter syndrome4�v Nephrolithiasis, calcium oxalateg	o�SNeurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia8	\w$Immunodeficiency, common variable, 50��Gm1-gangliosidosis, type IIID�0Pulmonary atresia with intact ventricular septumA	J-Pyruvate dehydrogenase phosphatase deficiencyB	Sn.Congenital disorder of glycosylation, type IIhG	s3Mitochondrial complex I deficiency, nuclear type 37Y	a�EShort stature, onychodysplasia, facial dysmorphism, and hypotrichosisV><BCataract, microcephaly, failure to thrive, kyphoscoliosis syndrome+?Xanthinuria, type I�n	[ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2G	fY3Glycosylphosphatidylinositol biosynthesis defect 11,	uSpermatogenic failure 67F�2Amelogenesis imperfecta, hypomaturation type, iia14! Spastic diplegia, Infantile type+	B�Usher syndrome, type IGI	]	5Charcot-marie-tooth disease, recessive intermediate B_;�GVitiligo, progressive, with mental retardation and urethral duplication�Q	j�=Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)6�M"Growth factors, combined defect of,	D^Smith-Mccort dysplasia 14	g� Familial adenomatous polyposis 3(��46,xy sex reversal 7>	g*Mental retardation, autosomal recessive 47\,�HArthrogryposis, distal, with mental retardation and characteristicfacies+	p�Usher syndrome, type 1M2�Alopecia universalis congenita/��Spondylocostal dysostosis 52	\Fanconi renotubular syndrome 2#	k'Lissencephaly 8&	6�Long QT syndrome 3
�6	R�"Ceroid lipofuscinosis, neuronal, 7)	+LKennerknecht syndrome6=�"Cataract and congenital ichthyosis2tEpilepsy, pyridoxine-dependent4	T{ Deafness, autosomal recessive 63%Fountain syndromeM	t�9Leukoencephalopathy, hereditary diffuse, with spheroids 2
�*�$Retinitis pigmentosa 6C/Retinopathy, pigmentary, and mental retardation?�+Deoxyribose-5-Phosphate aldolase deficiency*�(Laurence-Moon syndrome5	l�!Deafness, autosomal recessive 107;�`'Hypospadias-Mental retardation syndrome2 dAmyloidosis, cutaneous bullous$Sandhoff disease\	]HMethylmalonic aciduria, transient, due to transcobalamin receptor defect-	Y{Faciocardiomelic syndromeH\<4Dandy-Walker malformation with postaxial polydactyly<	a�(Sinoatrial node dysfunction and deafness!	,~
Naxos disease>	h*Spastic paraplegia 74, autosomal recessive0��Glycoprotein storage disease=G�)Bile acid synthesis defect, congenital, 4A5"-3-Methylcrotonyl-CoA carboxylase 2 deficiency4	<� Deafness, autosomal recessive 264	u� Liver disease, severe congenital>	^�*Spastic paraplegia 47, autosomal recessive>	`V*Thrombophilia due to thrombomodulin defect
�>	t�*Spastic paraplegia 86, autosomal recessive4�� Glutamate monosodium sensitivity^+�FTetra-Amelia with ectodermal dysplasia and lacrimal duct abnormalities�9>%Second metatarsal-metacarpal syndromeM	6)9Myopathy, myofibrillar, 9, with early respiratory failure
�'	o�Immunodeficiency 628	-�$Dyssegmental dysplasia with glaucoma-	D�Bothnia retinal dystrophyE��1Hypertelorism, microtia, facial clefting syndromei	H�UVater-Like defects with pulmonary hypertension, laryngeal webs, and growth deficiency7	a2#Ceroid lipofuscinosis, neuronal, 116	,�"Dental anomalies and short stature3fPErythrocytosis, familial, 8�5	S�!Asphyxiating thoracic dystrophy 2+ɺHypomagnesemia 3, renalS�?Achondroplasia, so-called, and severe combined immunodeficiencyL	d�8Macular degeneration, age-related, 15, susceptibility to
�+	>~Spondyloocular syndrome-	_Brittle cornea syndrome 2s	d�_Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity:�
&Hall-Riggs mental retardation syndrome8� $Cardiac valvular dysplasia, X-linked�3	o<Ciliary dyskinesia, primary, 40F	X�2Amelogenesis imperfecta, hypomaturation type, iia2I	c�5Charcot-Marie-Tooth disease, recessive intermediate C5��!Glaucoma 3, primary congenital, AK	a�7Spinal muscular atrophy, distal, autosomal recessive, 5%	D�Meckel syndrome 3$YlCYSTATHIONINURIA5	An!Albinism, oculocutaneous, type IVo	r�[Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies5�p!Myosclerosis, autosomal recessiveO	a�;Monocyte and dendritic cell deficiency, autosomal recessive(	\�Aromatase deficiency[	_�GEncephalopathy due to defective mitochondrial and peroxisomal fission 1;	^?'Fanconi anemia, complementation group P2	r�Bile acid conjugation defect 13	dQCiliary dyskinesia, primary, 28s	k�_Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies3��Hyperoxaluria, primary, type IIH	r4Myopathy, epilepsy, and progressive cerebral atrophy+	\�Retinitis pigmentosa 56/�@Premature ovarian failure 1
�"�Omodysplasia 1H��4Olivopontocerebellar atrophy II, autosomal recessiveF	n	2Tumoral calcinosis, hyperphosphatemic, familial, 24	8	 Left ventricular noncompaction 1
�D	s�0Combined oxidative phosphorylation deficiency 533	cECongenital short bowel syndrome0	E�Niemann-pick disease, type B$�zBruck syndrome 1	V�Dystonia 165�ZMonocyte chemotactic disorder�3Achalasia-Microcephaly syndrome)	nJaberi-Elahi syndrome3	I�Ichthyosis prematurity syndrome.	D�Patent ductus arteriosus 1&�8Hyper-Igd syndrome8	s�$Portal hypertension, noncirrhotic, 2'	iMJoubert syndrome 25G	r�3Mitochondrial complex I deficiency, nuclear type 36/ZAcrocraniofacial dysostosisE`t1Deafness, conductive, with malformed external ear4	[� Deafness, autosomal recessive 79>	S*Mental retardation, autosomal recessive 129S�%Cranial nerves, congenital paresis of? r+Insulin-Like growth factor I, resistance to<	b�(Colorectal cancer, susceptibility to, 12
�D	m�0Combined oxidative phosphorylation deficiency 36'	FNAlzheimer disease 3
�L	e�8Familial idiopathic steroid-resistant nephrotic syndromeA<a-Congenital disorder of glycosylation, type Ia<	i�(Trichothiodystrophy 6, nonphotosensitiveM	,�9Osteoporosis and oculocutaneous hypopigmentation syndromeS��?Candidiasis, familial chronic mucocutaneous, autosomal dominant2B	`�.Congenital disorder of glycosylation, type IIl`	?�HLaryngeal abductor paralysis with cerebellar ataxia and motor neuropathy
�@	L,Epileptic encephalopathy, early infantile, 3O79;Blepharophimosis with ptosis, syndactyly, and short stature-4�Chanarin-Dorfman syndrome92%Richieri-Costa/guion-Almeida syndrome-	m)Spinocerebellar ataxia 45
�/	s�Cardiomyopathy, dilated, 2E/�Senile plaque formation�D�x0Nystagmus, congenital motor, autosomal recessive9	c�%Epilepsy, familial adult myoclonic, 5"	b�Steel syndrome0+Aphalangy with hemivertebraeQ	Z�=Neurodegeneration due to cerebral folate transport deficiencyp	r\Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalitiesL	cc8Hypogonadotropic hypogonadism 18 with or without anosmia.�XJohanson-Blizzard syndrome'ɈStargardt disease 1$*�Teratoma, pinealH	f�4Immunodeficiency 38 with basal ganglia calcification4	Ps Deafness, autosomal recessive 68 -jTHREONINEMIA12\Atrichia with papular lesions+	\4Retinitis pigmentosa 54.	d�Nephrotic syndrome, type 9!sf
ENTEROCOLITIS0	^�Cranioectodermal dysplasia 37	m�#Leukodystrophy, hypomyelinating, 15,m&Dystonia with ringbinden+��Geleophysic dysplasia 13��Hydatidiform mole, recurrent, 1v	V�bMitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1+�Arachnoid cysts, intracranialD	_�0Neurodegeneration with brain iron accumulation 48	o�$Bleeding disorder, platelet-type, 22':�Vascular hyalinosis'��Perrault syndrome 1J��6Gonadal dysgenesis, xy type, with associated anomalies+3�Bardet-Biedl syndrome 1M	V�9Alopecia, neurologic defects, and endocrinopathy syndromeG	o3Mitochondrial complex I deficiency, nuclear type 234	[) Beta-Ureidopropionase deficiency2eTrichohepatoenteric syndrome 1/�Type I hyperlipoproteinemia4�p Osteogenesis imperfecta, type IXO	o$;Neurodegeneration, childhood-onset, with cerebellar atrophy,	u�Spermatogenic failure 75+	\�Retinitis pigmentosa 577	o�#Leukodystrophy, hypomyelinating, 18Y	r�EDeafness, congenital, and adult-onset progressive leukoencephalopathy/�FTreacher collins syndrome 3*t.Eosinophilic fasciitis"	_:Rafiq syndromer	p�^Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures.��Myopathy, centronuclear, 26	T�"Glycogen storage disease 0, muscleO	o>;Intellectual developmental disorder, autosomal recessive 68>��*Vestibulocochlear dysfunction, progressive�Z	t�FNeurodevelopmental disorder with hyperkinetic movements and dyskinesia(e$DIASTEMATOMYELIA�c	OlOMental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome8	fB$Focal segmental glomerulosclerosis 7
�H	e�4Mitochondrial complex III deficiency, nuclear type 8!	A�
Lig4 syndrome]�tIMale infertility with large-headed, multiflagellar, polyploid spermatozoaG	a�3Charcot-Marie-Tooth disease, demyelinating, type 4F#	F�Hypotrichosis 64	o� Deafness, autosomal recessive 995Zf!Cystinosis, adult nonnephropathic^	]�JMycobacterial and viral infections, susceptibility to, autosomal recessive/	pbNephrotic syndrome, type 21O	j�;Intellectual developmental disorder, autosomal recessive 741	@�Hypotonia-cystinuria syndrome'�|Dwarfism, Levi type<	jp(Muscular dystrophy, limb-girdle, type 2Y0K�Tooth agenesis, selective, 4K	a,7Immunodeficiency, common variable, 8, with autoimmunity,	k�Bardet-Biedl syndrome 21%��Lymphoma, hodgkinB�F.Mesoaxial hexadactyly and cardiac malformation=�)Mucopolysaccharidoses, unclassified types*d�Donnai-Barrow syndrome<	-�(Athabaskan brainstem dysgenesis syndrome=	j>)Lethal congenital contracture syndrome 10;	b�'Mitochondrial DNA depletion syndrome 11A	t�-Intellectual disability and myopathy syndrome,	t~Spermatogenic failure 60N	q3:Respiratory papillomatosis, juvenile recurrent, congenitalz	m�fNeurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures,	t�Spermatogenic failure 647�#Spinal muscular atrophy, X-linked 2�9	l�%Auditory neuropathy and optic atrophy4	-* Deafness, autosomal recessive 12y	(NeAutosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)+	Z�Glioma susceptibility 3A	b	-Congenital disorder of glycosylation, type It6	d"Infantile liver failure syndrome 17�#Endometriosis, susceptibility to, 1R;H:Visceral myopathy, familial, with external ophthalmoplegia�>	_@*Mental retardation, autosomal recessive 1657L!Mismatch repair cancer syndrome 1*hlDk phocomelia syndrome	o�Cataract 48=	j_)Crisponi/cold-Induced sweating syndrome 3^	0JNephropathy, progressive tubulointerstitial, with cholestatic liverdiseases	o,_Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum;	K'Fanconi anemia, complementation group IC	g�/Night blindness, congenital stationary, type 1G9	](%Spastic ataxia 4, autosomal recessive`	o�LNeurodevelopmental disorder with microcephaly and structural brain anomalies\iHDwarfism, low-birth-weight type, with unresponsiveness to growth hormoneD	m�0Combined oxidative phosphorylation deficiency 34-��Fingerprint body myopathy�3	b>Focal facial dermal dysplasia 49��%N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY/	a
Auriculocondylar syndrome 24	/
 Deafness, autosomal recessive 158	t5$Immunodeficiency 87 and autoimmunity5�]!Ventricular tachycardia, familial
�A	ji-Epileptic encephalopathy, early infantile, 40Nv�:Epiphyseal dysplasia of femoral head, myopia, and deafnessA	h	-Epileptic encephalopathy, early infantile, 50:�&Ectodermal dysplasia with adrenal cyst26	El"Pontocerebellar hypoplasia type 1A+6�T-SUBSTANCE ANOMALY�''�Anonychia congenita8	W�$Osteopetrosis, autosomal recessive 7S��?Hypogonadism, malehypogonadism and testicular atrophy, includedj	YjVExocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosisCu�/Epidermolysis bullosa with diaphragmatic hernia�	l�qNeurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizuresZ҄FMetaphyseal modeling abnormality, skin lesions, and spastic paraplegia0�0Shwachman-Diamond syndrome 1C	s/Microcephaly, epilepsy, and diabetes syndrome 2@��(Supranuclear palsy, progressive atypical
�CƆ+Lymphoblastic transformation, inhibition of�R	]�>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9n	DZHypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degenerationO	se;Megacystis-microcolon-intestinal hypoperistalsis syndrome 4R]�>Split-Hand/foot malformation 1 with sensorineural hearing loss<	k(Muscular dystrophy, limb-girdle, type 2ZB��.Amyloidosis, hereditary, transthyretin-related
�}��iHyperuricemia, infantile, with abnormal behavior and normal hypoxanthineguanine phosphoribosyltransferaseB	Cs.Congenital disorder of glycosylation, type IIDI	r�5Neuropathy, hereditary motor, with myopathic features#	C(Scheie syndromeO�z;Megacystis-microcolon-intestinal hypoperistalsis syndrome 1Y	n�EEctodermal dysplasia 14, hair/tooth type with or without hypohidrosis'	b:Joubert syndrome 20A	n�-Epileptic encephalopathy, early infantile, 68A	u�-Dworschak-Punetha neurodevelopmental syndrome(	o�URIDINE-CYTIDINEURIAA"-Acromesomelic dysplasia, Hunter-Thompson typeF��2Visceral neuropathy, familial, autosomal recessive1	JzWaardenburg syndrome, type 2DL	k�8Aortic aneurysm, familial thoracic 11, susceptibility to
�8	o�$Hypoalphalipoproteinemia, primary, 2E	M1Spastic paraplegia, optic atrophy, and neuropathy0	_�Cranioectodermal dysplasia 4\�2DGamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto�L	n&8Humerofemoral hypoplasia with radiotibial ray deficiency,	r�Spermatogenic failure 53-	mGalloway-Mowat syndrome 3^	[`JNight blindness, congenital stationary (complete), 1C, autosomal recessivej	c�VMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14A�|-Ichthyosis, congenital, autosomal recessive 1&�HYPOASCORBEMIA�/�Glucocorticoid deficiency 1 ��GALACTORRHEA]	MwITalo-Patello-Scaphoid osteolysis, synovitis, and short fourth metacarpals[	h�GSpastic tetraplegia, thin corpus callosum, and progressive microcephalyB<b.Congenital disorder of glycosylation, type IIaL	t�8Gastrointestinal defects and immunodeficiency syndrome 2,	f4Bardet-Biedl syndrome 11f+|RAplasia of extensor muscles of fingers, unilateral, with generalizedpolyneuropathy9	)�%Arterial dissection with lentiginosisB	k	*Spastic paraplegia 78, autosomal recessive
�A	j�-Microcephaly 17, primary, autosomal recessive<ޡ(Muscular dystrophy, limb-girdle, type 2B=4)Immunodeficiency 27A, mycobacteriosis, ARH�4Pulmonary hypertension, primary, autosomal recessive'	f�Perrault syndrome 55	o�!Deafness, autosomal recessive 113=	@�)Macrocephaly and epileptic encephalopathy'��Glutaric acidemia I9	ov%Cone-rod dystrophy and hearing loss 2$T�Temtamy syndrome0ETWaardenburg syndrome, type 3J	sv6Leber hereditary optic neuropathy, autosomal recessive/	D�Cardiomyopathy, dilated, 1M
�*	.�Vacuolar neuromyopathy
�O	sb;Megacystis-microcolon-intestinal hypoperistalsis syndrome 3++�Aprosencephaly syndromeB&l.Succinic semialdehyde dehydrogenase deficiency4	dt Deafness, autosomal recessive 76,	\Warsaw breakage syndrome6�|"Histiocytosis, familial lipochromef	aSR3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome)	O�Cone-Rod dystrophy 10C	Q�+Neutral lipid storage disease with myopathy
�I	)�5Myopathy, lactic acidosis, and sideroblastic anemia 1(	uwHoloprosencephaly 14,	Z�Candidiasis, familial, 4&	W�Joubert syndrome 9&	B�Nephronophthisis 4D	kU0Glycine encephalopathy with normal serum glycine/	r�Nephrotic syndrome, type 23,	m�Spermatogenic failure 24R	q�>Cone-rod synaptic disorder syndrome, congenital nonprogressive9U�%Craniosynostosis with fibular aplasias�_Retinal degeneration with nanophthalmos, cystic macular degeneration,and angle closure glaucomaRw�>Eyebrows, duplication of, with stretchable skin and syndactylyR	j�>Encephalopathy, progressive, with amyotrophy and optic atrophy/	C�Thyroid dyshormonogenesis 6:<�&Carnitine deficiency, systemic primaryD	r0Combined oxidative phosphorylation deficiency 48G	fA3Breasts and/or nipples, aplasia or hypoplasia of, 2>/^*Dihydropyrimidine dehydrogenase deficiency`'�LAniridia, partial, with unilateral renal agenesis and psychomotorretardationk��WMitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathySI�?Ciliary dyskinesia due to transposition of ciliary microtubules@��(Cardiomyopathy, familial hypertrophic, 4
�*	V�Hypouricemia, renal, 2)	I<Burn-Mckeown syndrome8	!�$Wolfram syndrome, mitochondrial form!	s�
Anencephaly 2AD^-Peroxisome biogenesis disorder 2A (Zellweger)F	n�2Mitochondrial complex I deficiency, nuclear type 32{Visceral steatosis, congenital'	c�Estrogen resistanceC:�/Hypogonadotropic hypogonadism 7 without anosmia>	b�*Mental retardation, autosomal recessive 35B	k�.Congenital disorder of glycosylation, type IIq7��Intrinsic factor deficiency�
�J	Z�6Neuropathy, hereditary sensory and autonomic, type IIB.	rOocyte maturation defect 9L	p�8Diencephalic-mesencephalic junction dysplasia syndrome 2^	rDJNeurodevelopmental disorder with microcephaly, seizures, and brain atrophyA	IR-Lipodystrophy, congenital generalized, type 17�k#Mitochondrial complex II deficiency	t-Dystonia 31,	c6Smith-Mccort dysplasia 2;	5K'Fanconi anemia, complementation group F#	VgRiddle syndromeg	gOS3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropeniaD	m�0Neurodegeneration with brain iron accumulation 7'	K�Foveal hypoplasia 2B	i|.Congenital disorder of glycosylation, type IIO"��Arima syndrome7	`�#Coenzyme Q10 deficiency, primary, 3-pRothmund-Thomson syndromeD	FO0Hypotrichosis-Lymphedema-Telangiectasia syndrome;	qj'Diabetes mellitus, permanent neonatal 4)��Zinc, elevated plasma�lRXAdrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency9	)%Aminopterin syndrome sine aminopterin+	U�Hypomagnesemia 4, renal9	_,%Craniosynostosis and dental anomalies5	f�!Macular dystrophy, vitelliform, 4
�9	[i%Factor XIII, A subunit, deficiency of=�q)Microphthalmia, isolated, with coloboma 4A	*�-Deafness, neurosensory, autosomal recessive 52	Z�Lymphoproliferative syndrome 1/	r�Hypercholanemia, familial 2+	g�Retinitis pigmentosa 71<��(Muscular dystrophy, limb-girdle, type 2H=�@)Roussy-Levy hereditary areflexic dystasia
�"	UySalih myopathyB	J.Congenital disorder of glycosylation, type IIe=	R�)Phosphoserine aminotransferase deficiencyG	o�3Arthrogryposis multiplex congenita 3, myogenic typeI	Mv5Short stature and facioauriculothoracic malformations<	e(Morbid obesity and spermatogenic failure<2�(Thyrotropin-Releasing hormone deficiency�	]NoThiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)%	<[Noonan syndrome 2r	r^Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse faciesI	l5Structural heart defects and renal anomalies syndrome2	m�Orofaciodigital syndrome XVIIIEb1Deafness, neural, with atypical atopic dermatitisV	aWBPulmonary fibrosis and/or bone marrow failure, telomere-related, 2
�,	p�Spermatogenic failure 42<	i{(Muscular dystrophy, limb-girdle, type 2W+	\�Senior-Loken syndrome 7X	]$DMicrocephaly, postnatal progressive, with seizures and brain atrophy5	[�!Hypermanganesemia with dystonia 1=	u)Immunodeficiency 97 with autoinflammationB	\�.Congenital disorder of glycosylation, type IIiG	o3Mitochondrial complex I deficiency, nuclear type 22F	n�2Mitochondrial complex I deficiency, nuclear type 94+� Tetraamelia, autosomal recessive:	b&Ectodermal dysplasia 5, Hair/nail typeA	n-Microcephaly 22, primary, autosomal recessiveX	nMDPolycystic kidney disease 6 with or without polycystic liver disease
�$jRudiger syndromeA�^-Gastroschisisabdominal wall defects, included'	m'Joubert syndrome 33 dSARCOSINEMIA#"XTangier disease)�XHYPER-BETA-ALANINEMIAZ	`cFMental retardation, autosomal recessive 34, with variant lissencephalyG	n3Glycosylphosphatidylinositol biosynthesis defect 17*[�Hypouricemia, renal, 10�Odontoonychodermal dysplasia2;�Von willebrand disease, type 3L�8Neuromyotonia and axonal neuropathy, autosomal recessive0	PAicardi-Goutieres syndrome 35�!Peroxisome biogenesis disorder 2B/�Glycogen storage disease IbG	o	3Mitochondrial complex I deficiency, nuclear type 28,	j�Spermatogenic failure 17=	f?)Familial dysalbuminemic hyperthyroxinemiaG	qE3Rhizomelic limb shortening with dysmorphic featuresA	a�-Peroxisome biogenesis disorder 5A (Zellweger)>	k6*Mental retardation, autosomal recessive 58O	k�;Short-Rib thoracic dysplasia 17 with or without polydactyly7��Amyotrophic lateral sclerosis 1
�I	q5Mitochondrial complex III deficiency, nuclear type 10+	f0Bardet-Biedl syndrome 7?��+Scapuloperoneal myopathy, X-linked dominant
�L	a�8Hypogonadotropic hypogonadism 13 with or without anosmiaA	e�-Epileptic encephalopathy, early infantile, 23H�e4Pyruvate dehydrogenase e3-binding protein deficiencyR	[%>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3A	fs-Microcephaly 13, primary, autosomal recessive3	feCiliary dyskinesia, primary, 30d	u�PNeurodevelopmental disorder with seizures, microcephaly, and brain abnormalities1'HMultiple sulfatase deficiency>	e*Spastic paraplegia 64, autosomal recessive)e�Diastrophic dysplasia,	p�Spermatogenic failure 39*��Megaloblastic anemia 19N�%Coloboma, ocular, autosomal recessive,	dgCandidiasis, familial, 8D	qg0Combined oxidative phosphorylation deficiency 44:�D&Fructose-1,6-Bisphosphatase deficiencyDw�0Factor V and factor VIII, combined deficiency of(	.�Cone-Rod dystrophy 6G	r�3Mitochondrial complex II deficiency, nuclear type 4N	S:Intellectual developmental disorder, autosomal recessive 7E	0�1Cholestasis, progressive familial intrahepatic, 3+	,kIron overload in africa�t �`Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardationF,�2Arterial calcification, generalized, of infancy, 1Q��=Hemosiderosis, pulmonary, with deficiency of gamma-A globulin9��!Larsen-like syndrome, Lethal type�.	sGlanzmann thrombasthenia 2/	*6UV-sensitive syndrome 1�)!�Spastic paraplegia 23=	-%Short stature syndrome, Brussels type�+	hxGlioma susceptibility 9
�O	n�7Muscular dystrophy, limb-girdle, autosomal recessive 23
�8	hz$Cerebrooculofacioskeletal syndrome 3$0�Pendred syndrome2	u�Carey-Fineman-Ziter syndrome 27	s(#Pontocerebellar hypoplasia, type 1F1ADe Sanctis-Cacchione syndrome0	O�Aicardi-Goutieres syndrome 2%	b�Cowden syndrome 6
�??r+Cerebellar ataxia and neurosensory deafnessW՚CBand-Like calcification with simplified gyration and polymicrogyria$0�Gilbert syndromeL	hD8Emery-Dreifuss muscular dystrophy 3, autosomal recessive(�Central core disease'	`AJoubert syndrome 167�#Pa polymorphism of alpha-2-globulin2	`Febrile seizures, familial, 11,	n�Spermatogenic failure 33F�82Hydrocephalus, nonsyndromic, autosomal recessive 14	6 Deafness, autosomal recessive 145	a�!Peroxisome biogenesis disorder 7B<ޠ(Muscular dystrophy, limb-girdle, type 2AP	Wg<Cerebroretinal microangiopathy with calcifications and cysts$	kVOptic atrophy 11#ODAchromatopsia 2&�dNephronophthisis 1s݈[Multicore myopathy with mental retardation, short stature, and hypogonadotropichypogonadism�X	gYDNeurodevelopmental disorder with microcephaly and spastic paraplegiav	q�bNeurodevelopmental disorder and structural brain anomalies with or without seizures and spasticityR	DQ>Gaze palsy, familial horizontal, with progressive scoliosis, 14	B� Cree mental retardation syndromeIun5Epidermolysis bullosa simplex with muscular dystrophyM	\�9Agenesis of the corpus callosum and congenital lymphedema/<`Weill-Marchesani syndrome 18��$Hyperostosis corticalis generalisata.f
Dicarboxylicamino aciduria2	gkLipoyltransferase 1 deficiencyP	q�<Sorbitol dehydrogenase deficiency with peripheral neuropathy6�"Polysaccharide, storage of unusual4	XQ Deafness, autosomal recessive 45S 2?Amyloidosis of gingiva and conjunctiva, with mental retardation9	-&%Charcot-Marie-Tooth disease, type 4B1m	-YMicrocephaly, congenital heart disease, unilateral renal agenesis,and hyposegmented lungs+PBrittle cornea syndrome&	q�Liberfarb syndromeI	i5Spondyloepimetaphyseal dysplasia, Faden-Alkuraya typed	E�PCharcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive)	h6Cone-Rod dystrophy 21U	^�AMitochondrial complex V (ATP synthase) deficiency, nuclear type 2;	Yn'Cerebral creatine deficiency syndrome 3aC�MCraniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome"�3MC syndrome 3>	L<*Spastic paraplegia 28, autosomal recessiveT	X*@Bone fragility with contractures, arterial rupture, and deafnessS	u?Peripheral motor neuropathy, childhood-onset, biotin-responsiveK	c�7Muscular dystrophy, limb-girdle, autosomal recessive 18S#y?Spinal muscular atrophy, type I, with congenital bone fractures&	o�Long QT syndrome 8
�*0Retinoschisis of foveaB	a�.Peroxisome biogenesis disorder 10A (Zellweger):	uR&Autoinflammatory-pancytopenia syndrome>	dC*Spastic paraplegia 79, autosomal recessive#	nHyperekplexia 4>	cv*Mental retardation, autosomal recessive 369`%Infantile sialic acid storage disease(MYunis-Varon syndrome7	s.#Leukodystrophy, hypomyelinating, 21	-�ALACRIMA)	j�Alazami-Yuan syndrome5	t_!Deafness, autosomal recessive 119H	_?4Hyperphosphatasia with mental retardation syndrome 3_	,KKDiaphragmatic defects, limb deficiencies, and ossification defects of skullR	k�>Immunoskeletal dysplasia with neurodevelopmental abnormalitiesQ	/G=Lymphedema, cardiac septal defects, and characteristic facies4�Oculorenocerebellar syndrome�S	b�?Facial dysmorphism, immunodeficiency, livedo, and short stature(	n^Ovarian dysgenesis 6,	f3Bardet-Biedl syndrome 10=	6�)Hypercholesterolemia, autosomal recessiveJ!�6Amyotrophic lateral sclerosis with polyglucosan bodies>	u�*Attention deficit-hyperactivity disorder 89	e�%Ataxia-Telangiectasia-Like disorder 2M	=�9Cardiomyopathy, dilated, with woolly hair and keratoderma/	k�Lopes-Maciel-Rodan syndrome(�NEPHROSIALIDOSIS�D	j�0Myasthenic syndrome, congenital, 20, presynaptic=	YT)Agammaglobulinemia 6, autosomal recessive,�&Neuraminidase deficiency#HPycnodysostosis=	W)Cardiomyopathy, familial hypertrophic, 11
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BRADYOPSIAK	Q(7Hypoaldosteronism, congenital, due to CMO II deficiency(��Septooptic dysplasia\	IpHMidface hypoplasia, obesity, developmental delay, and neonatal hypotonia-	FHypercholanemia, familial,	dzVan maldergem syndrome 2Yb�EMetachromatic leukodystrophy, adult-onset, with normal arylsulfatasea
�"	5�Omenn syndrome;	l|'Maleylacetoacetate isomerase deficiency=	:�)North american indian childhood cirrhosis;	=�'Myopathy, proximal, and ophthalmoplegiaO	p;Intellectual developmental disorder, autosomal recessive 71f.RPineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesO	r@;Neurodevelopmental disorder with seizures and brain atrophyIb15Deafness, sensorineural, Autosomal-Mitochondrial type:	qX&Alopecia-mental retardation syndrome 4m	s\YOnychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome4	d Deafness, autosomal recessive 88D	N0Spondylocostal dysostosis 3, autosomal recessive7	r�#Epilepsy, progressive myoclonic, 12.	t�Stuve-Wiedemann syndrome 26�"Polyhydramnios, chronic idiopathic+	_$Retinitis pigmentosa 61B�`.Ophthalmoplegia totalis with ptosis and miosis:;�&Rickets, vitamin D-resistant, type IIAD	g�0Combined oxidative phosphorylation deficiency 25.	nOocyte maturation defect 51	e)Renal hypodysplasia/aplasia 2'Immunodeficiency 48%��Nathalie syndrome*�lHyperlysinemia, type IA	.j-Yemenite deaf-blind hypopigmentation syndrome,	i�You-Hoover-Fong syndromeA	h�-Epileptic encephalopathy, early infantile, 35L{�8Femur, unilateral bifid, with monodactylous ectrodactyly�
HYPERLEXIAC4�/Beta-aminoisobutyric acid, urinary excretion of'	eImmunodeficiency 20h	s�TNeurodevelopmental disorder with motor and speech delay and behavioral abnormalities,	P�Koolen-De Vries syndrome�>	_�*Mental retardation, autosomal recessive 25e	pQNeurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements]	m#IShort stature, hearing loss, retinitis pigmentosa, and distinctive faciesJN6Pseudohermaphroditism, female, with skeletal anomalies%�T
Gapo syndrome�A )AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF�+	W�Meckel syndrome, type 6S	`e?Psychomotor retardation, epilepsy, and craniofacial dysmorphism5	a�!Peroxisome biogenesis disorder 9B+�Senior-Loken syndrome 1J	r�6Blistering, acantholytic, of oral and laryngeal mucosa�	u�vNeurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophyO	p�;Intellectual developmental disorder, autosomal recessive 72$	o#Hypotrichosis 14N��:Granulomatous disease with defect in neutrophil chemotaxisB	a�.Peroxisome biogenesis disorder 13A (Zellweger)B	i.Spinocerebellar ataxia, autosomal recessive 21A	(�-Deafness, neurosensory, autosomal recessive 3,-�Glanzmann thrombastheniaD	ik0Combined oxidative phosphorylation deficiency 29(	A�Kufor-Rakeb syndrome2	^Complement factor D deficiency+	2�Retinitis pigmentosa 250	r�Premature ovarian failure 18Q	j�=Dyskinesia, seizures, and intellectual developmental disorderb	iaNHypotonia, infantile, with psychomotor retardation and characteristic facies 2%	iISeckel syndrome 93�Pyruvate carboxylase deficiency*�*Pellagra-Like syndromer	j"^Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2B	q�.Combined oxidative phosphorylation defiency 46@%",Spondyloepimetaphyseal dysplasia, Irapa typeB	a�.Spinocerebellar ataxia, autosomal recessive 13<	f�(Palmoplantar keratoderma and woolly hair3�tSpinal muscular atrophy, type I4~� Folate malabsorption, hereditaryA	d4-Epileptic encephalopathy, early infantile, 183J�Citrulline transport defect�.�Renal tubular acidosis IIIA	]Z-Epileptic encephalopathy, early infantile, 124	D Deafness, autosomal recessive 33+	ndPeeling skin syndrome 68�$Adrenal hypoplasia, Cytomegalic typeCd�/Micromelic bone dysplasia with cloverleaf skull:	b&Ectodermal dysplasia 6, Hair/nail typefs�RComplement hyperactivation, angiopathic thrombosis, and protein-losing enteropathyL�8Charcot-Marie-Tooth disease with ptosis and parkinsonism+�Argininemia&	6�Sickle cell anemia+	_%Retinitis pigmentosa 62V	GaBPeriventricular heterotopia with microcephaly, autosomal recessiveP/|<Thyroid hormone resistance, generalized, autosomal recessive9�\%Digital clubbing, isolated congenital"	a	Meconium ileus+	]�Retinitis pigmentosa 20;	\'Fanconi anemia, complementation group O1	lSpecific granule deficiency 2>	I�*Ehlers-danlos syndrome, Beasley-Cohen type8	sF$Arthrogryposis multiplex congenita 6DU 0Craniometaphyseal dysplasia, autosomal recessive'=Ichthyosis vulgarisS.�?Spondyloepiphyseal dysplasia with congenital joint dislocations#	M
Nanophthalmos 2F	m�2Hydrocephalus, congenital, 3, with brain anomalies/�Acid phosphatase deficiency6	^x"Nestor-Guillermo progeria syndrome?	ue+Dentici-Novelli neurodevelopmental syndromel	`XCraniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies;��'Allergic bronchopulmonary aspergillosis
�,	m�Spermatogenic failure 27G	f3ACTH-independent macronodular adrenal hyperplasia 2
�7	i#Myasthenic syndrome, congenital, 193$Short-rib thoracic dysplasia 12A	oX-Epileptic encephalopathy, early infantile, 71O	k�;Intellectual developmental disorder, autosomal recessive 60.	`]Wiskott-Aldrich syndrome 2'	U�Long QT syndrome 10
�A	W�-Ichthyosis, congenital, autosomal recessive 6(	_�Ovarian dysgenesis 3+	hrRetinitis pigmentosa 74-�Scalp-Ear-Nipple syndrome2=	s�)Cardiomyopathy, familial hypertrophic, 28
�_��KHypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included#	_]Hypotrichosis 95	eF!Moyamoya disease 6 with achalasiaN�:Respiratory underresponsiveness to hypoxia and hypercapniaM	Vb9Ventricular tachycardia, catecholaminergic polymorphic, 2D	d0Combined oxidative phosphorylation deficiency 17(�Prune belly syndrome4	( Nivelon-Nivelon-Mabille syndrome,��+173470 integrin, beta-35�!Sarcoidosis, susceptibility to, 1
�H	l�0Combined oxidative phosphorylation deficiency 33
�>	i�*Spastic paraplegia 76, autosomal recessive>	e*Spastic paraplegia 63, autosomal recessiveK	8�7Spinal muscular atrophy, distal, autosomal recessive, 1D	e�0Cholestasis, progressive familial intrahepatic 4&ʾMannosidosis, betal	oQXEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2K	t.7Muscular dystrophy, limb-girdle, autosomal recessive 27bNRod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction3	j�Ciliary dyskinesia, primary, 35&�pBjornstad syndrome4	gN Amelogenesis imperfecta, type IF9�%Lipoid congenital adrenal hyperplasiaD�:0Oculodentodigital dysplasia, autosomal recessive,	j�Spermatogenic failure 16+	^FSpermatogenic failure 9N�o:Hypophosphatemia, renal, with intracerebral calcificationsG	n�3Mitochondrial complex I deficiency, nuclear type 103	Y)Ciliary dyskinesia, primary, 11;	Y�'Leukocyte adhesion deficiency, type IIIQ	q�=Hyper-IgE recurrent infection syndrome 5, autosomal recessive^�JUridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to7	X�#Myopathy, congenital, compton-northf�8RBladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT=;�)Ataxia with isolated vitamin E deficiency1�XGaucher disease, type III
�m	o4YNeurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia �GALACTOSEMIA#�BMulibrey nanismA	V�-Congenital disorder of glycosylation, type IN-	b�Brachydactyly, type A1, CJ	em6Short stature with microcephaly and distinctive facies#	`�Hyperekplexia 26	(O"Ceroid lipofuscinosis, neuronal, 89a<%Deafness, neural, congenital moderateF	u\2Cholestasis, progressive familial intrahepatic, 10'�Friedreich ataxia 1G�3Hepatic venoocclusive disease with immunodeficiency3	h!Ciliary dyskinesia, primary, 32-	g�Spinocerebellar ataxia 41
�H	e�4Mitochondrial complex III deficiency, nuclear type 72	K�Hyperthyroidism, nonautoimmune�=	gZ)Spastic paraplegia 73, autosomal dominant
�/�Erythrocytosis, familial, 2H	e�4Melanoma, cutaneous malignant, susceptibility to, 10
�Y	_�EMyopathy, areflexia, respiratory distress, and dysphagia, early-onset5	o!Deafness, autosomal recessive 112$	riCOACH syndrome 3)	qeAnauxetic dysplasia 34	FD Craniolenticulosutural dysplasia-\Cylindromatosis, familial
�L9T8Ulna and fibula, absence of, with severe limb deficiency=	\~)Agammaglobulinemia 4, autosomal recessiveT��@Dystonia, DOPA-responsive, with or without hyperphenylalaninemia=	]�)Cardiomyopathy, familial hypertrophic, 20
�4	\M Deafness, autosomal recessive 91$�RKindler syndrome@	u,Epidermolysis bullosa, junctional 2B, severe=	X6)Dystonia 17, torsion, autosomal recessive5	f&!Deafness, autosomal recessive 102G�3Multicentric osteolysis, nodulosis, and arthropathyG	r,3Mitochondrial complex IV deficiency, nuclear type 80�6Palant cleft palate syndrome%*�Anus, imperforate)�<Urbach-Wiethe disease5	l�!Epiphyseal dysplasia, multiple, 7E	Z�1Macrocephaly, alopecia, cutis laxa, and scoliosisR	j�>Arthrogryposis, distal, with impaired proprioception and touch'��Immunodeficiency 43D	d�0Neurodegeneration with brain iron accumulation 6/�zLipase deficiency, combined0n�Rosselli-Gulienetti syndromeI	i�5Parkinson disease 23, autosomal recessive early-onsetH	r54Mitochondrial complex IV deficiency, nuclear type 174	c Albinism, oculocutaneous, type V6��"Myopathy, congenital, bailey-bloch+	]�Retinitis pigmentosa 458	_9$Bleeding disorder, platelet-type, 11,	;qBrooke-Spiegler syndrome
�xURdCraniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosisB	^c.Dyskeratosis congenita, autosomal recessive, 2F$�2Spondyloepimetaphyseal dysplasia, Sponastrime type,;�Campomelia, Cumming typeC	f�/Macular dystrophy with central cone involvement\k2DCerebellar ataxia, mental retardation, and dysequilibrium syndrome 1�H;�4Methylmalonic aciduria and homocystinuria, Cblf type*��DUBIN-JOHNSON syndrome=	t�)Agammaglobulinemia 9, autosomal recessiveH	dV4Alacrima, achalasia, and mental retardation syndromee	q�QNeurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia1	[�Waardenburg syndrome, type 4BZ	qnFNeurodevelopmental disorder with hypotonia, microcephaly, and seizuresV	ojBMicrocephaly, growth deficiency, seizures, and brain malformations5�h!Protoporphyria, erythropoietic, 1A	o�-Epileptic encephalopathy, early infantile, 76@��,3-Hydroxyisobutyryl-Coa hydrolase deficiency,	s�Spermatogenic failure 56;	l�'Joint laxity, short stature, and myopiaI	_�5Platelet-Activating factor acetylhydrolase deficiencyx	m\dNeurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveG�3Myoglobinuria, acute recurrent, autosomal recessive4	Y% Deafness, autosomal recessive 1B8��$Immunodeficiency 59 and hypoglycemiaV	[TBMuscular dystrophy, congenital, due to integrin alpha-7 deficiency4	3� Deafness, autosomal recessive 13#�RBehcet syndrome5	L�!Filaminopathy, autosomal dominant
�<W�(Cutis laxa, autosomal recessive, type IAT&�@Angiomatosis, diffuse corticomeningeal, of divry and van bogaert/	_Hermansky-Pudlak syndrome 9:�&Frontonasal dysplasia with alar cleftsT	n�@Inflammatory bowel disease, immunodeficiency, and encephalopathy&��Netherton syndrome&	L�Al-Gazali syndromeN	_�:Myopia, high, with cataract and vitreoretinal degeneration5	-�!Peroxisome biogenesis disorder 1B#G�Hyperekplexia 1/�*Navajo neurohepatopathy
�O	t�;Intellectual developmental disorder, autosomal recessive 735?6Premature centromere division�<�(Nemaline myopathy 2, autosomal recessive>X*Cutis laxa, autosomal recessive, type IIIA^'FAnhidrosis, familial generalized, with abnormal or absent sweat glands�B	l�.Spinocerebellar ataxia, autosomal recessive 263	v
Intestinal dysmotility syndromeB@�.Xeroderma pigmentosum, complementation group DL	,'8Fallot complex with severe mental and growth retardation>	_�*Mental retardation, autosomal recessive 239	.%Spastic paraplegia and Evans syndrome$'�SULFOCYSTEINURIAA.�-Asthma, nasal polyps, and aspirin intolerance3	o�Ciliary dyskinesia, primary, 41"	'�Eiken syndrome'	`�Joubert syndrome 17Z	o�FGonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathyb	\^NHemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency/	UCardiomyopathy, dilated, 1X-��Mckusick-Kaufman syndromeF�P2Mandibulofacial dysostosis with mental retardation.	r{Osteogenesis imperfecta 21I	q�5Neurodegeneration, infantile-onset, biotin-responsiveQ	e�=Polyglucosan body myopathy 1 with or without immunodeficiency+m�Meier-Gorlin syndrome 1/	m7Nephrotic syndrome, type 163	c:Polydactyly, postaxial, type A6G	n�3Mitochondrial complex I deficiency, nuclear type 11H&�0Sucrosuria, hiatus hernia and mental retardation�'	lqImmunodeficiency 538	c$Osteosclerotic metaphyseal dysplasia%��Pancreatic cancer
�+	m5Retinitis pigmentosa 80}	-qiSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive/	gcLichtenstein-Knorr syndrome;�8'Mucus inspissation of respiratory tract1	]�Leber congenital amaurosis 15P#�<Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)W>�CWoolly hair, hypotrichosis, everted lower lip, and outstanding ears<	nD(Cardiomyopathy, familial hypertrophic 27,	+�Achondrogenesis, type IB.~`Flaujeac factor deficiency4	^ Deafness, autosomal recessive 89E	s�1Cholestasis, progressive familial intrahepatic, 6C	i�/Dyskinesia, limb and orofacial, infantile-onset<	k�(Ectodermal dysplasia 13, Hair/tooth type)��OsteochondrodysplasiaA	bn-Ichthyosis, congenital, autosomal recessive 7<��(Megalocornea-Mental retardation syndrome@	Y�,Interleukin 1 receptor antagonist deficiency-	omGalloway-Mowat syndrome 8=	\})Agammaglobulinemia 3, autosomal recessive9<�%Cardioskeletal syndrome, Kuwaiti type"��Krabbe diseasec~BOFibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly+	edRetinitis pigmentosa 69[	j~GEncephalopathy due to defective mitochondrial and peroxisomal fission 2v`�bDeafness, nerve type, with mesenteric diverticula of small bowel andprogressive sensory neuropathy8	; Cortisone reductase deficiency 1
�H	qG4Myopathy, congenital proximal, with minicore lesions3	iCiliary dyskinesia, primary, 33	tuDystonia 32H44Acheiropody acheiropodia acheiropody, Brazilian type7��#Isovaleric acid, inability to smell.p�Ellis-Van creveld syndromeI	`�5Neuropathy, hereditary sensory and autonomic, type VI6��"Leukodystrophy, hypomyelinating, 3b	1�NSkeletal dysplasia and progressive central nervous system degeneration, lethalj	g�VMyasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiencyCu�/Epidermolysis bullosa, junctional, Herlitz type'	t�Immunodeficiency 95:��&Isotretinoin embryopathy-like syndrome_	u�KNeurodevelopmental disorder with speech delay and variable ocular anomalies&�GLUTATHIONURIA�a	l�MEncephalopathy, neonatal severe, with lactic acidosis and brain abnormalities5R�Macular dystrophy, corneal, 1�L	p�8Hemolytic anemia due to glutathione reductase deficiency,	m�Spermatogenic failure 26W	^�CImmunodeficiency-Centromeric instability-facial anomalies syndrome24	\ Deafness, autosomal recessive 85N	[�:Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki typeM	u)9Epidermolysis bullosa, junctional 6, with pyloric atresia;L�'Cleft palate, deafness, and oligodontia1	pLeber congenital amaurosis 19D	l�0Combined oxidative phosphorylation deficiency 32L	i�8Spinal muscular atrophy with congenital bone fractures 2:	Pv&Alopecia-Mental retardation syndrome 2-	ttAcromesomelic dysplasia 4h	rqTNeurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities7	i#Coenzyme Q10 deficiency, primary, 8P	t`<Neurodevelopmental disorder with hearing loss and spasticity8	l�$3-methylglutaconic aciduria, type IX+	\�Retinitis pigmentosa 55<	/b(Muscular dystrophy, limb-girdle, type 2GY	pLENeurodevelopmental disorder with cerebellar hypoplasia and spasticityH;�4Methylmalonic aciduria and homocystinuria, Cblc type$ҼCRYOHYDROCYTOSIS�'	_�Nephronophthisis 139	n[%Epilepsy, familial adult myoclonic, 7
�>	\�*Ectodermal dysplasia-syndactyly syndrome 2T<R@Candidiasis, familial chronic mucocutaneous, autosomal recessive0�"Orofaciodigital syndrome IIIi�4UMicrophthalmia with hyperopia, retinal degeneration, macrophakia,and dental anomalies,xSjogren-Larsson syndromeC	i�/Anemia, sideroblastic, 3, pyridoxine-refractory&	_Muscle hypertrophy8Š$Miller-Dieker lissencephaly syndrome�1	*�Fryns microphthalmia syndrome6	g"Lissencephaly 6, with microcephaly;	+E'Fanconi anemia, complementation group EB	j�.Spinocerebellar ataxia, autosomal recessive 244	O� Deafness, autosomal recessive 66H	u4Mitochondrial DNA depletion syndrome 20 (MNGIE type)4	O_ Deafness, autosomal recessive 625	^�!Cortical malformations, occipitalA	d�-L-ferritin deficiency, dominant and recessive'	s�Joubert syndrome 38N	g�:Microcephaly and chorioretinopathy, autosomal recessive, 32)nGm2-Gangliosidosis, ab variant7	g #Myasthenic syndrome, congenital, 225	a�!Peroxisome biogenesis disorder 5B2�Osteolysis syndrome, recessive@	dB,Charcot-Marie-Tooth disease, axonal, type 2R<	t�(Congenital disorder of deglycosylation 2B��.Hutterite cerebroosteonephrodysplasia syndrome<	>�(Dimethylglycine dehydrogenase deficiencyT	.i@T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY$�Fish-Eye disease,	f8Bardet-Biedl syndrome 15p	t�\Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism5	rY!Mismatch repair cancer syndrome 3,	m�Spermatogenic failure 25%̨Meckel syndrome 1'Y�Cysteine peptiduriai%USpondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures>	_�*Mental retardation, autosomal recessive 279	,�%Neuronal intestinal dysplasia, type B�6	f�"Leukodystrophy, hypomyelinating, 9,	f<Bardet-Biedl syndrome 19H	r44Mitochondrial complex IV deficiency, nuclear type 16R	<E>Neuropathy, congenital hypomyelinating, 1, autosomal recessive3	qCiliary dyskinesia, primary, 44Q	M�=Obesity, early-onset, with adrenal insufficiency and red hair9	eH%Polymicrogyria, bilateral perisylvian+	tBoudin-Mortier syndromeA	a�-Peroxisome biogenesis disorder 8A (Zellweger)+	c&Card11 immunodeficiency+	puRetinitis pigmentosa 86PՐ<Microcephaly, seizures, spasticity, and brain calcifications'	h�Immunodeficiency 45?	m�+Body mass index quantitative trait locus 19'	^�Perrault syndrome 3'	]�Nephronophthisis 12,	stSpermatogenic failure 55Q	`)=Hypertrophic osteoarthropathy, primary, autosomal recessive 2�n
Lip prints6	P�"Leukodystrophy, hypomyelinating, 5%74Bangstad syndromeO�~;Hypomagnesemia 5, renal, with or without ocular involvement]	`:IThiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)>	^�*Spastic paraplegia 52, autosomal recessive+	F�Peeling skin syndrome 43?,Cenani-Lenz syndactyly syndrome2	\�Von willebrand disease, type 2H	h54Mitochondrial complex IV deficiency, nuclear type 139	qo%Retinal dystrophy with leukodystrophyy	-�eFacial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebsZ	-FEctrodactyly of lower limbs, congenital heart defect, and micrognathia(5JSitosterolemia 1
�2&NSubaortic stenosis, membranous`	cqLHypomyelination with brainstem and spinal cord involvement and legspasticity'	r�Li-Campeau syndrome9��%Diarrhea 2, with microvillous atrophy3	A�Amyotrophic lateral sclerosis 3
�#�Sclerosteosis 1R	p�>Cortical dysplasia, complex, with other brain malformations 10N>F:Optic disc anomalies with retinal and/or macular dystrophy;	2�'Acromesomelic dysplasia, Maroteaux typeA	ZU-Epileptic encephalopathy, early infantile, 39<	,�(Muscular dystrophy, limb-girdle, type 2F+	]�Meier-Gorlin syndrome 2(�TOvarian dysgenesis 1B	c.Combined d-2- and l-2-hydroxyglutaric aciduria*��Fructosuria, essential70�#Atonic-Astatic syndrome of foerster'	s�Martsolf syndrome 2+	f/Bardet-Biedl syndrome 5@	`$,Charcot-Marie-Tooth disease, axonal, type 2P+;|Hypophosphatasia, adultU	d/AMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)G	o3Mitochondrial complex I deficiency, nuclear type 18;	s�'Cardiomyopathy, familial restrictive, 6/	O�Senior-Loken syndrome 6�M	`b9Rigidity and multifocal seizure syndrome, lethal neonatal,	d�Warburg micro syndrome 48$Porphyria, congenital erythropoietic2��Jumping frenchman of maine�A	g-Epileptic encephalopathy, early infantile, 28b	B4NMental retardation, obesity, mandibular prognathism, and eye and skinanomaliesDb60Deafness, sensorineural, with pituitary dwarfism+	p�Lessel-Kubisch syndromeN��:Osteodysplasty, precocious, of danks, mayne, and kozlowskiA	m�-Epileptic encephalopathy, early infantile, 61/	cARetinitis pigmentosa 66
�_	o�KNeurodevelopmental disorder with impaired speech and hyperkinetic movements.��Phenformin 4-hydroxylation4	\� Hyperoxaluria, primary, type IIIU	J)ALeukoencephalopathy, arthritis, colitis, and hypogammaglobulinemaG	r+3Mitochondrial complex IV deficiency, nuclear type 7.	cLNephrotic syndrome, type 8>�6*Histidinuria due to A renal tubular defect-	n�Orthostatic hypotension 2+	W
Oculoauricular syndrome)	I7Sick sinus syndrome 1&	T�Joubert syndrome 7^	- JChondrodysplasia, lethal, with long bone angulation and mixed bone density^	5GJHypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss$	KPierson syndrome5��!D-bifunctional protein deficiency#Z4Cystic fibrosis>	_�*Mental retardation, autosomal recessive 19?	m�+Amyloidosis, primary localized cutaneous, 39�%Intracranial hypertension, idiopathic4	O� Deafness, autosomal recessive 599�8%Onychotrichodysplasia and neutropenia#	C&Hurler syndrome5	fj!Deafness, autosomal recessive 103S;�?VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1A	b�-Microcephaly 10, primary, autosomal recessive'	sMahvash disease
�N`:Short-Rib thoracic dysplasia 6 with or without polydactyly=�~)Achalasia-Addisonianism-Alacrima syndrome7�#Freesia flowers, inability to smellE"1Spastic paresis, glaucoma, and mental retardation.	jHypercalcemia, infantile 22	r�Oculomotor-abducens synkinesis/S�Cramps, familial adolescent3	r�Oocyte maturation defect 10
�,	g�Candidiasis, familial, 98�`$Hyperparathyroidism, neonatal severe7	n#Leukodystrophy, hypomyelinating, 170w�Faciothoracogenital syndromeG�3Hypoparathyroidism-Retardation-Dysmorphism syndromeR	U>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4C	Qv/Combined oxidative phosphorylation deficiency 46	j�"Heterotaxy, visceral, 8, autosomal0k�Dysmyelination with jaundice?Ѽ'Metaphyseal chondrodysplasia, Pena type�;.�'Asthma, short stature, and elevated iga8	M�$Thyroid hormone metabolism, abnormal�	j�sLanguage delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia,	r^Spermatogenic failure 47'	d�Immunodeficiency 16X3jDAural atresia, multiple congenital anomalies, and mental retardationZ	L�FMental retardation, keratoconus, febrile seizures, and sinoatrialblock<	8~(Muscular dystrophy, limb-girdle, type 2EQs4=Endocardial fibroelastosis and coarctation of abdominal aortaF	n�2Mitochondrial complex I deficiency, nuclear type 6R	ft>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7D�0Myopathy with exercise intolerance, Swedish type:	A�&GLYCINE N-METHYLTRANSFERASE DEFICIENCYP	1k<Ossification of the posterior longitudinal ligament of spine9	g�%Trichothiodystrophy 3, photosensitiveO	u�;Intellectual developmental disorder, autosomal recessive 776	O�"Pontocerebellar hypoplasia, type 5+	_AMeckel syndrome, type 9F	o�.Spinocerebellar ataxia, autosomal recessive 27
�'	rvImmunodeficiency 75A	n�-Microcephaly 24, primary, autosomal recessive+	\XRetinitis pigmentosa 51[�_GHyperparathyroidism, neonatal self-limited primary, with hypercalciuriaA	g�-Dyskeratosis congenita, autosomal recessive 6<�((Hallux varus and preaxial polysyndactyly7	m�#Osteogenesis imperfecta, type XVIII.	b3Leptin receptor deficiencye	j�QGrowth retardation, impaired intellectual development, hypotonia, and hepatopathy2	G�Tropical calcific pancreatitis'8�Tyrosinemia, type I*	>�Glycine encephalopathyB	5�.Congenital disorder of glycosylation, type IIfT	\�@Disordered steroidogenesis due to cytochrome P450 oxidoreductaseG	n�3Mitochondrial complex I deficiency, nuclear type 15G	t�3Charcot-Marie-Tooth disease, demyelinating, type 1H
�-	olGalloway-Mowat syndrome 7,p
ECTRODACTYLY-POLYDACTYLY7|0#Fever, familial lifelong persistent-	I�Spinocerebellar ataxia 20
�7	nA#Parkinsonism-Dystonia, infantile, 2{	q-gNeurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation7	`�#Coenzyme Q10 deficiency, primary, 50	r�Premature ovarian failure 19NΜ:Intellectual developmental disorder, autosomal recessive 1=	D�)Cardiomyopathy, familial hypertrophic, 25
�"8Short syndrome
�+	kXRetinitis pigmentosa 77=	s)Immunodeficiency 14B, autosomal recessiveF	i�2Split-Foot malformation with mesoaxial polydactylyA	1�-Congenital disorder of glycosylation, type Ibi	[#UMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1-��Amyloidosis, Finnish type
�<	Z�(Nijmegen breakage syndrome-like disorder+	]�Meier-Gorlin syndrome 3H	^H4Chronic granulomatous disease 3, autosomal recessiveB��.Anhidrosis, isolated, with normal sweat glands7	r?#Leukodystrophy, hypomyelinating, 20,�lRichards-Rundle syndrome-z�Farber lipogranulomatosis#��German syndrome+~~Fleck retina of kandori,	t�Spermatogenic failure 61:�"Alpha-2-deficient collagen disease�2	R�Complement factor I deficiency+	k�Retinitis pigmentosa 789�%Pulmonary bullae causing pneumothoraxi	vUDevelopmental delay with short stature, dysmorphic facial features, and sparse hair 2'	^AImmunodeficiency 51<	En(Lethal congenital contracture syndrome 20	bMyoclonus, familial cortical
�F	j=2Hydrops, lactic acidosis, and sideroblastic anemia;	j0'Cerebral palsy, spastic quadriplegic, 37	`�#Coenzyme Q10 deficiency, primary, 6@�@,Microcephaly, primary autosomal recessive, 19;%Hypoparathyroidism, familial isolatedM�X9Lymphoblastic leukemia, acute, with lymphomatous featuresi	q�UNeurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities@	a�,Microcephaly 9, primary, autosomal recessiveG3�3Trichoodontoonychial dysplasia with bone deficiency0YCyanosis and hepatic disease6	,"Supranuclear palsy, progressive, 1
�"P�Cornea plana 27	.N#Bartter syndrome, type 1, antenatal6	h#"Infantile liver failure syndrome 2/	*^Varicella, severe recurrent <�CARNOSINEMIA1	kgAnterior segment dysgenesis 89�%Renal dysplasia-limb defects syndrome'�DHoloprosencephaly 13	nOCiliary dyskinesia, primary, 38`�LHypertrichosis terminalis, generalized, with or without gingival hyperplasia3	r�Endove syndrome, Limb-Only type<	5�(Spastic paraplegia 8, autosomal dominant
�\	J�HDeafness, autosomal recessive 36, with or without vestibular involvementG/Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
�w	E�cLeukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadismL	u�8Immunodeficiency 106, susceptibility to viral infections5	]/!Congenital prothrombin deficiency2�Mucopolysaccharidosis, type VI'	N�Immunodeficiency 540	l[Orofaciodigital syndrome XVIW	ZI?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15
�g	+�SIchthyosis-Mental retardation syndrome with large keratohyalin granules in the skin=	aU)Mitochondrial pyruvate carrier deficiency6�Myeloperoxidase deficiency�
�>�N*Lymphoid system deterioration, progressiveG	r�3Mitochondrial complex II deficiency, nuclear type 37	X%#Pontocerebellar hypoplasia, type 2B8	b�$Osteopetrosis, autosomal recessive 8d	ZSPMicrocephaly, growth retardation, cataract, hearing loss, and unusual appearance4	C? Deafness, autosomal recessive 22.I�Boucher-Neuhauser syndrome+	]�Retinitis pigmentosa 44V��BCarbamoyl phosphate synthetase I deficiency, hyperammonemia due to,	_QWarburg micro syndrome 26	h;"Osteogenesis imperfecta, type XVIIT*�@Teeth, noneruption of, with maxillary hypoplasia and genu valgum19�Sabinas brittle hair syndromeL	i�8Spinal muscular atrophy with congenital bone fractures 1M	`R9Congenital cataracts, hearing loss, and neurodegenerationE	g�1Myasthenic syndrome, congenital, 4B, fast-channel��kLymphopenic hypergammaglobulinemia, antibody deficiency, autoimmunehemolytic anemia, and glomerulonephritisX	c3DHydrocephalus, congenital, 2, with or without brain or eye anomalies)@Cerebellar hypoplasia6	XU"Epilepsy, progressive myoclonic 1BV"fBSpastic quadriplegia, retinitis pigmentosa, and mental retardation2	O,Microphthalmia with coloboma 39&:%Striatonigral degeneration, infantileN	_�:Short-Rib thoracic dysplasia 5 with or without polydactyly#	cLissencephaly 5.	Z�Metaphyseal anadysplasia 2^�ZJOptic atrophy, hearing loss, and peripheral neuropathy, autosomalrecessive<	g^(Lethal congenital contracture syndrome 7:��&Methylmalonyl-Coa epimerase deficiency*	C'Hurler-Scheie syndromeR	c�>Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)G	o
3Mitochondrial complex I deficiency, nuclear type 33O	gl;Short-Rib thoracic dysplasia 13 with or without polydactylyu	D�aThiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)'	jFMyopathy, distal, 54�� Amelogenesis imperfecta, type IE�0�Chondrodysplasia, Grebe typeG	ZW3Leukoencephalopathy, cystic, without megalencephaly"oLEctopia lentisH	b�4Mitochondrial complex III deficiency, nuclear type 3)	'�SPONDYLOCAMPTODACTYLYA	G-Spinocerebellar ataxia, autosomal recessive 63	oCiliary dyskinesia, primary, 39>	_�*Amyotrophic lateral sclerosis 16, juvenileaSIALURIA�I	n�5Muscular dystrophy, limb-girdle, autosomal dominant 4
�EͶ1Thiamine-Responsive megaloblastic anemia syndromeU	n#ARhizomelic skeletal dysplasia with or without Pelger-Huet anomalyo	,�WAlopecia-Mental retardation syndrome with convulsions and hypergonadotropichypogonadism�\�0HMuscular dystrophy, congenital, with infantile cataract and hypogonadism3m�Schopf-Schulz-Passarge syndrome*-LThoracomelic dysplasia4	9� Bare lymphocyte syndrome, type I+	j�Retinitis pigmentosa 76$��Donohue syndrome>	g�*Basal ganglia calcification, idiopathic, 6
�O	u�;Neurodevelopmental disorder with language delay and seizure-	A�Spinocerebellar ataxia 15
�=	ZL)Cutis laxa, autosomal recessive, type IIBJ	q]6Vertebral, cardiac, renal, and limb defects syndrome 3/	\�Glycogen storage disease XV8	-o$Charcot-Marie-Tooth disease, type 4DC	fF/Hennekam lymphangiectasia-lymphedema syndrome 2@	FW,Charcot-Marie-Tooth disease, axonal, type 2K?	_y+Combined malonic and methylmalonic aciduria3	o�Hydatidiform mole, recurrent, 3+	a�Usher syndrome, type IJF	ub2Cholestasis, progressive familial intrahepatic, 11e	l�QPlatelet abnormalities with eosinophilia and immune-mediated inflammatory diseaseJ	o�6Cerebellar, ocular, craniofacial, and genital syndromeB@�.Xeroderma pigmentosum, complementation group Cy	q�eMuscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15,	t�Spermatogenic failure 63M-z9Camptodactyly-Arthropathy-Coxa vara-pericarditis syndromeE	pR1Myopathy, congenital, progressive, with scoliosis'	`@Joubert syndrome 15#jHMotion sickness�B2�*Hypothyroidism, congenital, nongoitrous, 4�F	k2Amelogenesis imperfecta, hypomaturation type, IIA6K	il7Muscular dystrophy, limb-girdle, autosomal recessive 25;y='Fanconi anemia, complementation group C<	_�(Alpha-methylacyl-CoA racemase deficiency<� (Metaphyseal chondrodysplasia, Spahr typer	i�^Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to
�1	t�Mucopolysaccharidosis, type XQ
�=Acanthosis nigricans with muscle cramps and acral enlargementU	qvASkeletal dysplasia, mild, with joint laxity and advanced bone age,	VyStevenson-Carey syndrome::�&Right ventricular hypoplasia, isolated,	f6Bardet-Biedl syndrome 13%��HYDROXYPROLINEMIAG[�3Mitochondrial complex IV deficiency, nuclear type 1'	a�Immunodeficiency 30+	_KAdams-Oliver syndrome 27	e�#Pontocerebellar hypoplasia, type 2E(nFraser-Like syndrome8�v$Panencephalitis, subacute sclerosing.	j,Polycystic liver disease 2
�&(�Tardive dyskinesia*�Smith-Magenis syndrome
�>	r*Spastic paraplegia 83, autosomal recessive,~Polymyoclonus, infantileJ	jj6Muscular dystrophy, congenital, Davignon-Chauveau type7	D�#Coenzyme Q10 deficiency, primary, 1F#�2Spinocerebellar degeneration and corneal dystrophy?	-i+Deafness, progressive, with stapes fixationC	P�/Combined oxidative phosphorylation deficiency 2i	[$UMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 28[�$Leigh syndrome, french Canadian typeJ	9D6Neuropathy, hereditary motor and sensory, Okinawa type
�A	k�-Epileptic encephalopathy, early infantile, 52:	)`"Muscular dystrophy, scapulohumeral��>	e*Spastic paraplegia 62, autosomal recessiveD	]60Spondylocostal dysostosis 4, autosomal recessiveI	s�5Visceral neuropathy, familial, 2, autosomal recessive7	@�#Primary lateral sclerosis, juvenileL	a�8Hypogonadotropic hypogonadism 11 with or without anosmia0�Gerstmann-Straussler disease
�\	a�HMicrocephaly, short stature, and polymicrogyria with or without seizures'	LNemaline myopathy 1@	]�,Immunodeficiency due to ficolin 3 deficiencyI	p�5Short stature and microcephaly with genital anomaliesb	u�NNeurodevelopmental disorder with spasticity, seizures, and brain abnormalitiesM	^�9Ventricular tachycardia, catecholaminergic polymorphic, 3/	^�Hermansky-Pudlak syndrome 5H	m�4Amyotrophic lateral sclerosis, susceptibility to, 25
�/	n�Nephrotic syndrome, type 17*	^�Trypsinogen deficiency4	O� Deafness, autosomal recessive 678	s�$Hypokalemic tubulopathy and deafness4	d� Asparagine synthetase deficiencyB	s�.Spinocerebellar ataxia, autosomal recessive 31>3*Hypothyroidism, congenital, nongoitrous, 1J	Ch646XY gonadal dysgenesis with minifascicular neuropathy;	Gj'Immunodeficiency with hyper-igm, type 5/>Cataract 46, juvenile-onset#&Canavan disease;	G�'Immunodeficiency with hyper-IgM, type 4W	oM?Basal ganglia calcification, idiopathic, 7, autosomal recessive
�,	XGPrekallikrein deficiency3	[ICiliary dyskinesia, primary, 13/	=�Cardiomyopathy, dilated, 1K
�G	q3Mitochondrial complex I deficiency, nuclear type 34A	d�-Congenital disorder of glycosylation, type Ix@	9R,Amegakaryocytic thrombocytopenia, congenitalo	q[Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures/	lgNephrotic syndrome, type 14.��Glycogen storage disease V/	U�Combined saposin deficiency8	0�$Spondylometaphyseal dysplasia, axial@	Y�,Growth hormone deficiency, isolated, type IB$h�Duodenal atresia4	M� Deafness, autosomal recessive 53?	k�+Thrombocytopenia, anemia, and myelofibrosisU$�AAnemia, sideroblastic, pyridoxine-responsive, autosomal recessive%	,cGurrieri syndromeF	.�2Ehlers-Danlos syndrome, musculocontractural type 1,	j�Bardet-Biedl syndrome 22F	a�2Amelogenesis imperfecta, hypomaturation type, iia4-	N�Aminoacylase 1 deficiencyb	]bNHemorrhagic destruction of the brain, subependymal calcification,and cataractsn	l7ZNeurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomaliesh	ggTPeeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads'(Rapadilino syndromeA	:i-Ichthyosis, congenital, autosomal recessive 5%	aHSeckel syndrome 64	Cl Deafness, autosomal recessive 31-�Schneckenbecken dysplasia0	\�Cranioectodermal dysplasia 2+	f2Bardet-Biedl syndrome 98	^�$Focal segmental glomerulosclerosis 64	o� Deafness, autosomal recessive 947	d#Episodic pain syndrome, familial, 2
�]	p^INeurodevelopmental disorder with brain anomalies, seizures, and scoliosis=	b�)Microphthalmia, isolated, with coloboma 9)��Acetylation, slow�A	F�-Congenital disorder of glycosylation, type IiW	jCCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B.��Uncombable hair syndrome 1#��Keutel syndrome+	i�Paget disease of bone 6
�&	k%Seckel syndrome 10,	o�Spermatogenic failure 38<	h7(Lethal congenital contracture syndrome 94	\ Deafness, autosomal recessive 849	S�%Spastic ataxia 2, autosomal recessive �zTrichomegaly-	tSGalloway-Mowat syndrome 9HJ�4Cleft larynx, posteriorstridor, congenital, included)	k�Anauxetic dysplasia 2&	]�Nephronophthisis 9'	f�Immunodeficiency 37/�TMICROCEPHALY-CARDIOMYOPATHY+	gIPeeling skin syndrome 3>	S#*Mental retardation, autosomal recessive, 4l	j�XEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1F	n�2Mitochondrial complex I deficiency, nuclear type 5H	r74Mitochondrial complex IV deficiency, nuclear type 19,	tSpermatogenic failure 573$�Splenoportal vascular anomaliesQ	n�=Cortical dysplasia, complex, with other brain malformations 9-	[�Spinocerebellar ataxia 30
�A	Q�-Congenital disorder of glycosylation, type Im/��GM1-gangliosidosis, type II3	]�Osteogenesis imperfecta, type XA	[�-Lipodystrophy, congenital generalized, type 4D	g�0Hypomagnesemia, seizures, and mental retardation4	kQ Amelogenesis imperfecta, type IJ=	a)Cardiomyopathy, familial hypertrophic, 21
�"��Raine syndrome;	ch'Fanconi anemia, complementation group QC	Iz/Neuronopathy, distal hereditary motor, type IIB
�4	a� Deafness, autosomal recessive 98>B`*Basal ganglia calcification, idiopathic, 1
�8�n$Mesomelic limb shortening and bowingR	J :Sudden infant death with dysgenesis of the testes syndrome�,	`�Preeclampsia/eclampsia 5
�7	u�#Pontocerebellar hypoplasia, type 17A	n-Microcephaly 23, primary, autosomal recessive$	p�Siddiqi syndrome8\�$Jervell and Lange-Nielsen syndrome 1@W�,Pituitary adenoma 4, ACTH-secreting, somatic3	bCiliary dyskinesia, primary, 19>�6*Dyggve-Melchior-Clausen syndrome, X-linked�7	k#Cone-rod dystrophy and hearing loss-,Argininosuccinic aciduriaH�r4Keratoderma, palmoplantar, norrbotten Recessive type+	WERetinitis pigmentosa 29>	i�*Mental retardation, autosomal recessive 53.	b�Microphthalmia, isolated 8,	-.Van maldergem syndrome 1a	mJMNeurodevelopmental disorder with microcephaly, seizures, and cortical atrophyR	`r>Thrombophilia due to protein S deficiency, autosomal recessive3<pCardiac lipidosis, familial�K	R�7Spinal muscular atrophy, distal, autosomal recessive, 4?y+Transient bullous dermolysis of the newborn01�Hyperchlorhidrosis, isolatedF	u2Epidermolysis bullosa, junctional 2A, intermediate&	M/Joubert syndrome 4J	]\6Leukoencephalopathy with dystonia and motor neuropathyK�*7Retinitis pigmentosa with or without skeletal anomaliesO	O�;Diabetes mellitus, neonatal, with congenital hypothyroidism3	c~Ciliary dyskinesia, primary, 21:	b&Ectodermal dysplasia 9, Hair/nail type}	t�iLeukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy'	a�Nephronophthisis 15:&Alport syndrome 2, autosomal recessivef	heRKlippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism3j8Dyggve-Melchior-Clausen disease5	r�!Deafness, autosomal recessive 117��
PENTOSURIA&	]=Long QT syndrome 6
�>	-^*Rhizomelic dysplasia, Patterson-Lowry typeE	d�1Autoimmune lymphoproliferative syndrome, type IIIJ	e�6Leukoencephalopathy, progressive, with ovarian failure%j�Cowden syndrome 1
�Y	o�ESpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3'	iPJoubert syndrome 269	`W%Spastic ataxia 5, autosomal recessiveH	`�4Leukoencephalopathy, brain calcifications, and cysts8	<�$Segawa syndrome, autosomal recessive@/�,Thyroid hormonogenesis, genetic defect in, 1-�$Glaucoma 1, open angle, P
�2B�Cerebrotendinous xanthomatosis7PConotruncal heart malformations�:#`&Spinal muscular atrophy, Ryukyuan type'	d�Joubert syndrome 22��,�Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency0	,ITrisomy 18-like syndrome�O	f;Intellectual developmental disorder, autosomal recessive 44'	K�Kanzaki disease
�,	f;Bardet-Biedl syndrome 182��Peroneal nerve, accessory deep�"	Z93-M syndrome 20��Periodontitis, aggressive, 14	b Deafness, autosomal recessive 70L	s8Ondontochondrodysplasia 2 with hearing loss and diabetesW	_PCRetinal arterial macroaneurysm with supravalvular pulmonic stenosisI	U�5Krabbe disease, atypical, due to saposin A deficiency+	X�Retinitis pigmentosa 46E	dW1Myopathy due to myoadenylate deaminase deficiencyj	o�VIntellectual developmental disorder with short stature and variable skeletal anomaliesU	s�ANeurodevelopmental disorder with seizures and brain abnormalities@	h�,Charcot-Marie-Tooth disease, axonal, type 2X3	e�Ciliary dyskinesia, primary, 29>�j*3-Hydroxyacyl-Coa dehydrogenase deficiency+	uERetinitis pigmentosa 93$'�Summitt syndrome5	a�!Peroxisome biogenesis disorder 4BA	mH-Microcephaly 19, primary, autosomal recessive#�SACCHAROPINURIA'	>|Nonaka myopathy
�B�D.Ichthyosis, congenital, autosomal recessive 4B<l�(Facioscapulohumeral muscular dystrophy 2
�B	^d.Dyskeratosis congenita, autosomal recessive, 36	_�"Complement component 4A deficiencyC��/Lecithin:cholesterol acyltransferase deficiency>	du*Mental retardation, autosomal recessive 39N	d":Microcornea, myopic chorioretinal atrophy, and telecanthusN-6Arthrogryposis multiplex congenita with whistling face�E	t1Biliary, renal, neurologic, and skeletal syndrome.	+�Nephrotic syndrome, type 2@kCerebellar vermis aplasia with associated features suggesting smith-lemli-opitzsyndrome and meckel syndrome:n&Red skin pigment anomaly of new guinea"yBFanconi anemiaA	c-Dyskeratosis congenita, autosomal recessive 5,	f7Bardet-Biedl syndrome 14+�Dupuytren contracture 1
�$M(Coach syndrome 1@	]+,Chromosome 17q11.2 deletion syndrome, 1.4-mb�l	[ XMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4B	q5.Triokinase and FMN cyclase deficiency syndrome+	V�Retinitis pigmentosa 419	F�%Epilepsy, familial adult myoclonic, 2
�	a�Dystonia 23
�@~$,Fibular hypoplasia and complex brachydactyly$	U�Elliptocytosis 1/	^�Hermansky-Pudlak syndrome 7O	no;Intellectual developmental disorder, autosomal recessive 63O7*;Microcephalic osteodysplastic primordial dwarfism, type III@	8�,Microcephaly 4, primary, autosomal recessive2�6Hypogonadism-Cataract syndromeog�[Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
�4�� Oral sensibility, disturbance of'�HChondrocalcinosis 2
�J	l�6Vertebral, cardiac, renal, and limb defects syndrome 1	.AOBESITY:	A@&Homozygous 11p15-p14 deletion syndrome'	t*Joubert syndrome 39A	AQ-Ichthyosis, congenital, autosomal recessive 3N	H�:Intellectual developmental disorder, autosomal recessive 3 *hTeeth, fused/�0GLYCOGEN STORAGE DISEASE Ic4	j� Familial adenomatous polyposis 4'	l]Perrault syndrome 6A	_W-Microcephaly, epilepsy, and diabetes syndromeO	h�;Seizures, scoliosis, and macrocephaly/microcephaly syndromey��eHirschsprung disease with ulnar polydactyly, polysyndactyly of bigtoes, and ventricular septal defect?	o�+Spondyloepiphyseal dysplasia, Kondo-Fu type9@TYROSINOSIS>	u0*Agammaglobulinemia 8B, autosomal recessiveCl�/Dyssegmental dysplasia, Rolland-Desbuquois typeB	Mo.Deafness, neurosensory, autosomal recessive 46+	n�Retinitis pigmentosa 844	c� Albinism, oculocutaneous, type VDx0Faciodigitogenital syndrome, autosomal recessive,	r�Spermatogenic failure 51[	/`GKeratosis linearis with ichthyosis congenita and sclerosing keratoderma\0HAtaxia-Telangiectasia with generalized skin pigmentation and early death4� Familial Mediterranean fever, ARQ	o�=Immunodeficiency 63 with lymphoproliferation and autoimmunity+��Gaucher disease, type ID	m�0Neurodegeneration with brain iron accumulation 8N˸:Marfanoid habitus with microcephaly and glomerulonephritisO	n};Intellectual developmental disorder, autosomal recessive 65H	e$4Hyperphosphatasia with mental retardation syndrome 4-	K�Schindler disease, type IC	5�/Hemophagocytic lymphohistiocytosis, familial, 4,�0Spinocerebellar ataxia 1
�%	eSeckel syndrome 8Ei41Dwarfism, mental retardation, and eye abnormalityB	K*Spastic paraplegia 27, autosomal recessive
�F	n
2Tumoral calcinosis, hyperphosphatemic, familial, 37	s�#Bile acid malabsorption, primary, 2,3$Atrophoderma vermiculata5��!Spinal muscular atrophy, type IIID	m�0Short-Rib thoracic dysplasia 20 with polydactyly>	_i*Mental retardation, autosomal recessive 18h	S!TLeukoencephalopathy with brainstem and spinal cord involvement and lactate elevation/�lGlycogen storage disease IIJ��6Gastrointestinal defects and immunodeficiency syndrome(	WTrehalase deficiency(FSjogren syndrome�2	uMyopia 28, autosomal recessive3�XMuscular dystrophy, Becker type
�O	n�;Ophthalmoplegia, external, with rib and vertebral anomalies*	_<Psoriasis 14, pustularN	r�:Neurofacioskeletal syndrome with or without renal agenesisG	uS3Phosphoribosylaminoimidazole carboxylase deficiency>	]p*Spastic paraplegia 51, autosomal recessive2	K�Griscelli syndrome, type 3�&	Q�Joubert syndrome 6u��aMultinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly_	r�KLeukoencephalopathy, progressive, infantile-onset, with or without deafness5	Qz!Osteogenesis imperfecta, type VII4	/x Otofacioosseous-Gonadal syndrome+9�Usher syndrome, type ICE`�1Deafness, congenital, with vitiligo and achalasia9	U�%Bestrophinopathy, autosomal recessiveV	YlBDystonia, dopa-responsive, due to sepiapterin reductase deficiencyO	kk;Intellectual developmental disorder, autosomal recessive 59S$?Renal tubular acidosis, distal, with progressive nerve deafnessH	r34Mitochondrial complex IV deficiency, nuclear type 15"�8Cornea plana 1}	J�iSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positiveL`�8Deafness, conductive, with ptosis and skeletal anomalies3RCorneal dystrophy, Central typeA	n�-Spondyloepimetaphyseal dysplasia, Krakow type4	a� Deafness, autosomal recessive 93&	f{Mirror movements 3N	]�:Short-Rib thoracic dysplasia 4 with or without polydactyly=�)Omphalocele-Cleft palate syndrome, lethal8	^�$Phosphoserine phosphatase deficiency&	/�Nephronophthisis 2B	L�.Myopathy, autophagic vacuolar, infantile-onset0	ruKaya-Barakat-Masson syndrome5	k!Sudden cardiac failure, infantile<	ci(Congenital disorder of deglycosylation 1&	lZMeckel syndrome 13J	0X6Ventriculomegaly with defects of the radius and kidney:	b&Ectodermal dysplasia 7, Hair/nail type$	\#Oguchi disease-2'�Rhizomelic syndromeC	,�/Atrophia maculosa varioliformis cutis, familial;	b�'Maple syrup urine disease, mild variantW��CNephrosis with deafness and urinary tract and digital malformationsA	kA-Epileptic encephalopathy, early infantile, 49<9U(Ulnar hypoplasia with mental retardation4	O� Deafness, autosomal recessive 651	E�Niemann-pick disease, type C2+	h�Senior-Loken syndrome 9r	h&^Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities]	uDIIntellectual developmental disorder with or without peripheral neuropathyE�r1Microcephaly with cervical spine fusion anomalies/	K�Glucocorticoid deficiency 3K	u�7Spinal muscular atrophy, distal, autosomal recessive, 6=(.)Crisponi/cold-induced sweating syndrome 1C	Y�/Spondyloepimetaphyseal dysplasia, Aggrecan type6	a{"Heterotaxy, visceral, 6, autosomal;	Y�'Cerebral creatine deficiency syndrome 2<	p2(Trichothiodystrophy 7, nonphotosensitive,	n~Spermatogenic failure 30E	t�1Cholestasis, progressive familial intrahepatic, 8C��/Night blindness, congenital stationary, type 1B2	q�Fanconi renotubular syndrome 5]	sZIDeafness, cataract, impaired intellectual development, and polyneuropathy)��Pierre Robin syndrome$��Renal glucosuria0�`Glycogen storage disease VII0	Z�Glycogen storage disease IXc0	n�Squalene synthase deficiency0	npPremature ovarian failure 15U	uGANeurodegeneration, childhood-onset, with progressive microcephaly/	Q?Cataract 11, multiple types@	N�,2-Methylbutyryl-Coa dehydrogenase deficiency$	h�Roifman syndrome3	Y*Ciliary dyskinesia, primary, 12^	k�JMuscular dystrophy, congenital, with cataracts and intellectual disability,	p�Spermatogenic failure 41[	qFGMyopathy, congenital, with respiratory insufficiency and bone fracturesU	^�AMitochondrial complex V (atp synthase) deficiency, nuclear type 3/	8�Cardiomyopathy, dilated, 1H
�A	X�-Lipodystrophy, congenital generalized, type 3+	e-Retinitis pigmentosa 68H�4Pseudohypoaldosteronism, type I, autosomal recessive0	ZXAicardi-Goutieres syndrome 5*��Retinitis pigmentosa 10��Genitopalatocardiac syndrome>	\�*Ectodermal dysplasia-syndactyly syndrome 1B	q�.Congenital disorder of glycosylation, type IIt4�n Spinal muscular atrophy, type II8	;[$Hypobetalipoproteinemia, familial, 23	d�Leukoencephalopathy with ataxiaI	U5Renal tubular acidosis, distal, with hemolytic anemia;	K['Limb-girdle muscular dystrophy, type 1G
�a	kZMColoboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness"	+�Brody myopathy.	u�Stickler syndrome, type VI+��Heart block, congenitalP	q�<Microcephaly, developmental delay, and brittle hair syndrome9	C�%Moyamoya disease 2, susceptibility toG	n�3Mitochondrial complex I deficiency, nuclear type 14.	fMyopathy, centronuclear, 57	pn#Pontocerebellar hypoplasia, type 13F�2Acrodermatitis enteropathica, Zinc-Deficiency type;	dO'Short rib-polydactyly syndrome, type VIN	-�:Hypotrichosis, congenital, with juvenile macular dystrophy+	r�Baralle-Macken syndromeV�vBHyperlysinemia due to defect in lysine transport into mitochondria,	r Myofibrillar myopathy 10-�Papillon-Lefevre syndrome+�Reese retinal dysplasiac	(;OAtrioventricular septal defect with blepharophimosis and anal andradial defects1��Parkinson disease, late-onset
�7	['#Nephronophthisis-Like nephropathy 1=Xr)Cutis marmorata telangiectatica congenita(H�Lacrimal duct defect,E�Chediak-Higashi syndrome3	q1Ciliary dyskinesia, primary, 45=	ZY)Parkinson disease 14, autosomal recessiveVp(BEhlers-Danlos syndrome, autosomal recessive, cardiac valvular form/	r�Nephrotic syndrome, type 24@	I�,Microcephaly 5, primary, autosomal recessive8	d$Aortic aneurysm, familial thoracic 8
�D�60Microcephalic primordial dwarfism, Toriello type'	_Joubert syndrome 13\�9HAmyotrophic lateral sclerosis 15 with or without frontotemporal dementia
�F	�2Vitamin D hydroxylation-deficient rickets, type 1AD	oY0Combined oxidative phosphorylation deficiency 37V	aVBPulmonary fibrosis and/or bone marrow failure, telomere-related, 1
�0��Glycogen storage disease III-	nmSpinocerebellar ataxia 48
�X	pIDNeurodevelopmental disorder with ataxia, hypotonia, and microcephaly3	liCiliary dyskinesia, primary, 370	9&Welander distal myopathy
�e	m�QNeurodevelopmental disorder with microcephaly, cataracts, and renal abnormalitiesA	K�-Spinocerebellar ataxia, autosomal recessive 7C��/Hypohidrosis with abnormal palmar dermal ridgesE	lw1Proteasome-Associated autoinflammatory syndrome 3#	1DESMOSTEROLOSISA0D-Thyroid hormonogenesis, genetic defect in, 2A;��'Hyperphenylalaninemia, bh4-deficient, C/��Specific granule deficiency<�j(Multiple pterygium syndrome, Lethal type)	f�Catel-Manzke syndromeH	^�4Methylmalonate semialdehyde dehydrogenase deficiency0��Metachromatic leukodystrophy/	o�Khan-Khan-Katsanis syndromen	[!ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5<	d�(Palmoplantar keratoderma, Nagashima typeO	f�;Intellectual developmental disorder, autosomal recessive 46+	+�Usher syndrome, type ID%	l�Fraser syndrome 2#	]�Achromatopsia 4A	q�-Epileptic encephalopathy, early infantile, 865	o�!Deafness, autosomal recessive 114,	1Hemochromatosis, type 2AE	s61Oculogastrointestinal neurodevelopmental syndrome{	,MgCleft lip/palate with characteristic facies, intestinal malrotation,and lethal congenital heart disease@1,Thyroid hormonogenesis, genetic defect in, 31	O�Anterior segment dysgenesis 2N7 :Microcephalic osteodysplastic primordial dwarfism, type II>	g�*Lissencephaly 7 with cerebellar hypoplasia6	b�"Myasthenic syndrome, congenital, 8'	d�Immunodeficiency 179	c�%T-CELL RECEPTOR-ALPHA/BETA DEFICIENCYL	f^8Hypogonadotropic hypogonadism 22 with or without anosmia,��Wolf-Hirschhorn syndrome�+	K�Senior-Loken syndrome 51	fHyperlipoproteinemia, type ID#�TOrotic aciduria-ъCartilage-hair hypoplasiaG	o3Mitochondrial complex I deficiency, nuclear type 328	+{$Proprotein convertase 1/3 deficiencyM	H9Deafness, congenital neurosensory, autosomal recessive 40+*6Teebi-Shaltout syndromeK	v7Ciliary dyskinesia, primary, 48, without situs inversus4	L� Deafness, autosomal recessive 23G	q�3Mitochondrial complex I deficiency, nuclear type 352Q�Corneal dystrophy, band-shaped5	n�!Epidermodysplasia verruciformis 2a	kBMDystonia, childhood-onset, with optic atrophy and basal ganglia abnormalitiesl	V�XMitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)/	G�Hermansky-Pudlak syndrome 2=	k�)Cutis laxa, autosomal recessive, type IID2	`�Trichohepatoenteric syndrome 2O��;Myotonia with skeletal abnormalities and mental retardationb	pKNNeurodevelopmental disorder with cataracts, poor growth, and dysmorphic faciesR	X\>Ciliary dyskinesia, primary, 9, with or without situs inversus$�Hartnup disorder>	ZH*Spastic paraplegia 50, autosomal recessiveA	d�-Anemia, congenital dyserythropoietic, type IbKb|7Leukoencephalopathy, diffuse hereditary, with spheroids
�<�(Renal, genital, and middle ear anomalies5	dj!Parkinson disease 20, early-onset&�vMcdonough syndromeD	n�0Myasthenic syndrome, congenital, 24, presynaptic7	s'#Pontocerebellar hypoplasia, type 1E0	]�Leber congenital amaurosis 8*	G�Retinitis pigmentosa 7:��"Ceroid lipofuscinosis, neuronal, 1�6	b1"Pontocerebellar hypoplasia, type 8?�2+Progeroid short stature with pigmented nevi.T�Cranioectodermal dysplasia,	f9Bardet-Biedl syndrome 16#	`�Hyperekplexia 3/�Pseudodiastrophic dysplasia9	o�%Fetal akinesia deformation sequence 32+�Apolipoprotein C-II deficiencyB	f�.Spinocerebellar ataxia, autosomal recessive 17G	p�3Oculopharyngeal myopathy with leukoencephalopathy 1
�J	X�6Neutropenia, severe congenital, 4, autosomal recessive>��*Hyperinsulinemic hypoglycemia, familial, 1R	C�>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5"�wJawad syndromeB	/�.Fibrosis of extraocular muscles, congenital, 2D	[a0Diarrhea 5, with tufting enteropathy, congenitalr	u�^Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects=	W)Cardiomyopathy, familial hypertrophic, 12
�I��1Cone dystrophy, X-linked, with tapetal-like sheen�
�/	uyCardiomyopathy, dilated, 2GO	dE;Intellectual developmental disorder, autosomal recessive 371��Niemann-pick disease, type C1Hט4Microtia with meatal atresia and conductive deafness,	f:Bardet-Biedl syndrome 17@f-,Rhizomelic chondrodysplasia punctata, type 2i	g�UMyasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency%	Q�Alopecia areata 2A	k�-Epileptic encephalopathy, early infantile, 53R*T>Teeth, congenital absence of, with taurodontia and sparse hair7	gp#Myasthenic syndrome, congenital, 176��"Cataract 13 with adult i phenotype7Ov#Complement component c1r deficiency6	Rc"Osteogenesis imperfecta, type VIII<l�(Dystonia 2, torsion, autosomal recessive<�R(Mucopolysaccharidosis type IVB (Morquio)C²/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency6	i-"Heterotaxy, visceral, 7, autosomalq	p�]Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures0�ADT-Peroxisome biogenesis disorder 1A (Zellweger)!��
Peho syndromeD	m�0Combined oxidative phosphorylation deficiency 35&	q+Juvenile arthritisR	G!>Encephalopathy, acute, infection-induced, susceptibility to, 3
�H�4Fundus dystrophy, pseudoinflammatory, recessive form8	a�$Interstitial nephritis, karyomegalicA	c�-Epileptic encephalopathy, early infantile, 16K�07Phosphoenolpyruvate carboxykinase deficiency, cytosolic)>�Wrinkly skin syndromeQ	^%=Megalencephalic leukoencephalopathy with subcortical cysts 2A?X�+Cutis verticis gyrata and mental deficiency0	s�Aicardi-Goutieres syndrome 9;	.�'Megaloblastic anemia, folate-responsive'	d�Joubert syndrome 217�#Paroxysmal nocturnal hemoglobinuria
�7	gT#Coenzyme Q10 deficiency, primary, 7>	N�*Cataract, autosomal recessive congenital 25	a�!Peroxisome biogenesis disorder 8BY�NEIchthyosis with alopecia, eclabion, ectropion, and mental retardation5	Z�!Glaucoma 3, primary congenital, D;C�'Cerebrocortical degeneration of infancy�	i�oMetabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegenerationM��9Hemolytic uremic syndrome, atypical, susceptibility to, 11��Kenny-caffey syndrome, type 1)z
Fanconi-Like syndrome6�"Gastric cancer, hereditary diffuse
�4	Oi Deafness, autosomal recessive 49,	p�Spermatogenic failure 40R	o�>Myopathy, congenital, with fast-twitch (type ii) fiber atrophyL�.8Hair defect with photosensitivity and mental retardation#	^�Lissencephaly 483$Hyperkeratosis lenticularis perstans
�C	l6/Erythrokeratodermia variabilis et progressiva 40S�Corpus callosum, agenesis of%	8�
Salla disease�0	I)Leber congenital amaurosis 9,	T7Usher syndrome, type IIDK	*I7Carnitine palmitoyltransferase II deficiency, infantiledq�PEncephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts#��Optic atrophy 6M	Z=9Hemolytic uremic syndrome, atypical, susceptibility to, 5
�6	o�"Amelogenesis imperfecta, type IIIC)	YRSpherocytosis, type 5Y	i�EOsteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type7�|Granulomas, congenital cerebral��D	k0Combined oxidative phosphorylation deficiency 31<�\(Neuropathy, hereditary sensory, atypical0�Plasmin inhibitor deficiencyD	e�0Combined oxidative phosphorylation deficiency 21/	n�Nephrotic syndrome, type 19"�6Gombo syndrome(9�Urocanase deficiencyF	c�2Ehlers-Danlos syndrome, spondylodysplastic type, 2T	s�@Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathyD<D,Multiple system atrophy 1, susceptibility to
�A�-Globulin anomaly involving beta (2a)-globulin
�/	iNephrotic syndrome, type 11+�Peeling skin syndrome 12��Properdin deficiency, X-linked�D	f�0Inflammatory skin and bowel disease, neonatal, 22PPlasminogen deficiency, type IW	[kCCerebellar ataxia, mental retardation, and dysequilibrium syndrome33	F�Microphthalmia, syndromic 6`�/	o�Oculoskeletodental syndromeAxl-Renal failure, progressive, with hypertension
�;	n�'Hyperparathyroidism, transient neonatal4#�Anemia, autoimmune hemolytic�T	jT@Short stature, developmental delay, and congenital heart defectsV	i�BCerebellar atrophy, visual impairment, and psychomotor retardation,	uSpermatogenic failure 66Akx-Anemia, congenital dyserythropoietic, type IaF	?h.Congenital disorder of glycosylation, type IIB�,	_Meckel syndrome, type 10-	u�Lymphatic malformation 12@	Y_,Microcephaly 7, primary, autosomal recessive0	gPolyglucosan body myopathy 2d	nHPNeurodevelopmental disorder with cerebellar atrophy and with or without seizures\	uFHImmunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias5O�!Complement component 2 deficiency/��Glycogen storage disease VIa�VMGrowth hormone insensitivity with immune dysregulation 1, autosomal recessiveC	U�/Combined oxidative phosphorylation deficiency 5/	-Amelia, autosomal recessiveA	e�-Epileptic encephalopathy, early infantile, 21k	m4WCombined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemiaP�*<Spondyloepiphyseal dysplasia with punctate corneal dystrophy�@	H�,Microcephaly, primary autosomal recessive, 6D	[�0Hypophosphatemic rickets, autosomal recessive, 20	]�Leber congenital amaurosis 6#	SfHamamy syndrome+	[sFactor XIIIB deficiencyL#�4Spinocerebellar degeneration with slow eye movements�7	g$#Myasthenic syndrome, congenital, 14=��)Mental retardation syndrome, Belgian type5<fCarboxypeptidase N deficiency�>5�*Spastic paraplegia 20, autosomal recessive-	k*Myopathy, myofibrillar, 8:	4"Pseudouridinuria and mental defect�=9�)Brachydactyly, type A2, with microcephaly+	/�Usher syndrome, type IF&	T�Nephronophthisis 7I�85Indifference to pain, congenital, autosomal recessiveN~L:Fibuloulnar aplasia or hypoplasia with renal abnormalities;	.e'Arthrogryposis and ectodermal dysplasiaP	f<Immunodeficiency 26 with or without neurologic abnormalities/	e+Premature ovarian failure 8:@&Gastritis, familial giant hypertrophic'	h�Immunodeficiency 42M	V29Congenital arthrogryposis with anterior horn cell disease+<\Carbimazole sensitivityY��ANeurologic disease, infantile multisystem, with osseous fragility�G	u�3Diaphragmatic hernia 4, with cardiovascular defects.	O-Microphthalmia, isolated 2C	j@/Night blindness, congenital stationary, type 1H,	r�Spermatogenic failure 50(3dTRACHEOBRONCHOMEGALY'	T�Immunodeficiency 35-	`hUsher syndrome, type IIIBG	3�3Mitochondrial DNA depletion syndrome 1 (MNGIE type)7;�#Pontocerebellar hypoplasia, type 2A5	a�!Peroxisome biogenesis disorder 6B'	l�Joubert syndrome 301	-�Mucopolysaccharidosis type IX$=~Sengers syndromebt�NEpidermolysis bullosa, late-onset localized junctional, with mentalretardation5	e�!Deafness, autosomal recessive 101&	]8Long QT syndrome 2
�&ٌMorquio syndrome C>	i�*Mental retardation, autosomal recessive 52$Alstrom syndrome�	u3uIntellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly>	d�*Spastic paraplegia 57, autosomal recessivei	p�UNeurodevelopmental disorder with microcephaly, cortical malformations, and spasticityVO�BCongenital heart defects, hamartomas of tongue, and polysyndactyly"��Fryns syndromeW�4CMetaphyseal dysostosis, mental retardation, and conductive deafness8	\u$Immunodeficiency, common variable, 3+s�Enterokinase deficiency$	YiKahrizi syndrome*9�Elsahy-Waters syndrome,��Hyperprolinemia, type II>	Mf*Epidermolysis bullosa, lethal acantholyticAw�-Focal facial dermal dysplasia 3, Setleis type9��%Multiple sclerosis, susceptibility to
�.��Orofaciodigital syndrome VB	a�.Peroxisome biogenesis disorder 12A (Zellweger)6q�"Pontocerebellar hypoplasia, type 4?	)(+Aplasia cutis congenita of limbs, recessive7	nQ#Pontocerebellar hypoplasia, type 1D/�Agnathia-Otocephaly complex7	`�#Coenzyme Q10 deficiency, primary, 25H!Chondrodysplasia, Blomstrand typeQ	(=Spondyloepiphyseal dysplasia tarda with characteristic faciesn�hZMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4=��)Hyperphosphatasia with mental retardationN	S:Intellectual developmental disorder, autosomal recessive 5W	l�CNeurodevelopmental disorder with microcephaly, ataxia, and seizures/�fHypophosphatasia, childhoodi	dTUErythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-igeD	j�0Short-rib thoracic dysplasia 15 with polydactylyD	hb0Short-Rib thoracic dysplasia 14 with polydactylyA9V-Ulnar agenesis and endocardial fibroelastosisk	t�WNeurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus,	l�Spermatogenic failure 23G	s�3Short-rib thoracic dysplasia 21 without polydactyly.	\�Forsythe-Wakeling syndrome3	dCiliary dyskinesia, primary, 23@	a,Microcephaly 8, primary, autosomal recessive(	gRuijs-Aalfs syndrome(	X@Factor XI deficiency2	S�Dystonia, focal, task-specific
�=	`P)Hypertriglyceridemia, transient infantileFRd2Corneal endothelial dystrophy, autosomal recessive5	_!Glutathione peroxidase deficiency0��3-hydroxyisobutyric aciduria.�dLanger mesomelic dysplasiaX	-DMyelodysplasia, immunodeficiency, facial dysmorphism, short stature,X	l/DNeurodevelopmental disorder with hypotonia, neuropathy, and deafness@1p,Thyroid hormonogenesis, genetic defect in, 44	Oj Deafness, autosomal recessive 44$	b�Alazami syndromeJ� 2Insensitivity to pain, congenital, with anhidrosis
�<	e(Sacral agenesis with vertebral anomalies%	],Seckel syndrome 4;	?�'Diabetes mellitus, permanent neonatal 1Q�<=Mesangial sclerosis, diffuse renal, with ocular abnormalities#2�Tiglic acidemiaD	e�0Combined oxidative phosphorylation deficiency 20B	lp.Spinocerebellar ataxia, autosomal recessive 25@	rh,Neuropathy, distal hereditary motor, type VC
�)	f%Cone-Rod dystrophy 20,	qLymphatic malformation 8+	k�Pseudo-Torch syndrome 2)	`dCone-Rod dystrophy 16<	[9(Cutis laxa, autosomal recessive, type IC5	rX!Mismatch repair cancer syndrome 2/$Hermansky-Pudlak syndrome 1/	t�Oocyte maturation defect 121	u�Waardenburg syndrome, type 2F2�Pyropoikilocytosis, hereditary#m�Ebstein anomaly>F�*Diarrhea 1, secretory chloride, congenitalD	d�0Combined oxidative phosphorylation deficiency 19C��/Myopathy due to malate-aspartate shuttle defect.	k$Uncombable hair syndrome 3I5Robin sequence with cleft mandible and limb anomalies9	9�%Charcot-Marie-Tooth disease, type 4B2+	oiRetinitis pigmentosa 85/	N{Cardiomyopathy, dilated, 1Q
�;	O�'Glycosylphosphatidylinositol deficiencyB�x.Nephropathy, deafness, and hyperparathyroidism�	\�pBrachydactyly, type A1, with short stature, scoliosis, microcephaly,ptosis, hearing loss, and mental retardation$-�Ascites, chylous-w�Faciocardiorenal syndrome;32'Tongue, pigmented fungiform papillae of[	1RGSevere combined immunodeficiency with sensitivity to ionizing radiation-	LSpinocerebellar ataxia 26
�?	B�+Vascular malformation, primary intraosseous-W�Curved nail of fourth toe8	A�$Uveal melanoma, susceptibility to, 1
�D	j9,Charcot-Marie-Tooth disease, axonal, type 2T
�7	`#Epilepsy, familial temporal lobe, 5'	j�Joubert syndrome 28F	W�2Ehlers-Danlos syndrome, spondylodysplastic type, 3O	u�;Primordial dwarfism-immunodeficiency-lipodystrophy syndrome2	dMyopia 23, autosomal recessive�EbvNeuropathy, hereditary motor and sensory, with deafness, mental retardation,and absent sensory large myelinated fibers.�jOsteopenia and sparse hairc	njONeurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosumP��<Hypothyroidism, athyroidal, with spiky hair and cleft palate:�r&Lymphedema-Hypoparathyroidism syndromeK	J'7Muscular dystrophy, limb-girdle, autosomal recessive 10F	m"2Leukodystrophy, progressive, early childhood-onsetB	ui.Developmental and epileptic encephalopathy 102f	h4RCardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3i	JHUMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6C	]�/Night blindness, congenital stationary, type 1DE	D'1Autoimmune lymphoproliferative syndrome, type IIB\	\;HAmyotrophic lateral sclerosis 12 with or without frontotemporal dementiaI�5Mitochondrial DNA depletion syndrome 4A (Alpers type)P	a^<Myasthenic syndrome, congenital, 13, with tubular aggregatesH	f�4Mitochondrial complex III deficiency, nuclear type 9[	--GCervical ribs, sprengel anomaly, anal atresia, and urethral obstruction,	r�Spermatogenic failure 52C	b�/Night blindness, congenital stationary, type 1F,	P�Retinal cone dystrophy 4I	J�5Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency4�8 Schwartz-jampel syndrome, type 1K	p�7Immunodeficiency 65, susceptibility to viral infections@	[�,Plasminogen activator inhibitor-1 deficiencyV	l<BIntellectual developmental disorder with neuropsychiatric features0	q4Sandestig-Stefanova syndrome4	i Deafness, autosomal recessive 975	R�!Deafness, autosomal recessive, 245	n�!Deafness, autosomal recessive 1110	]
Cardiomyopathy, dilated, 1GG8	d�$Hypobetalipoproteinemia, familial, 1=	c.)Agammaglobulinemia 7, autosomal recessiveA	]-Congenital disorder of glycosylation, type Ip4	[� Bile acid malabsorption, primary0q�Aicardi-Goutieres syndrome 1"[�
CYSTINURIA�9�%Pleoconial myopathy with salt craving2��Hypergonadotropic hypogonadism*RGray platelet syndrome'xHFactor V deficiencyD70Microcephalic primordial dwarfism, Montreal typeF�2Cryptophthalmos, unilateral or bilateral, isolated?	i�+Exercise intolerance, riboflavin-responsive5<!Acrocephalopolysyndactyly type IVPw�<Facial abnormalities, kyphoscoliosis, and mental retardationtZI`Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation,	n�Spermatogenic failure 341	f�Retinal dystrophy and obesity+	c�Adams-Oliver syndrome 4noZEctodermal dysplasia, hypohidrotic, with hypothyroidism and agenesisof the corpus callosum�G�;3Vasculopathy, retinal, with cerebral leukodystrophy
�-	\�Fetal encasement syndrome#	,Harrod syndrome;��'Ullrich congenital muscular dystrophy 15��!Glycogen storage disease 0, livere	o�QLeukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate5	n!Deafness, autosomal recessive 1090	oxBrain small vessel disease 3C	m/Erythrokeratodermia variabilis et progressiva 5U	c<AMitochondrial complex V (atp synthase) deficiency, nuclear type 41Acrorenal-Mandibular syndromeN.t:Short-Rib thoracic dysplasia 1 with or without polydactyly$	Z�Cone dystrophy 4,	u�Spermatogenic failure 74*	]cRetinitis pigmentosa 4C?�/Cerebellar ataxia, benign, with thermoanalgesiaI	l�5Cerebellar atrophy, developmental delay, and seizuresE	uI1Cholestasis, progressive familial intrahepatic, 9:�&Immune defect due to absence of thymus=	F)Bile acid synthesis defect, congenital, 1P��<Combined cellular and humoral immune defects with granulomask��WHomocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity"�Scott syndrome,	o�Spermatogenic failure 37#	q	Catifa syndromeB	1 .Ichthyosis, congenital, autosomal recessive 11\	FoHMuscular dystrophy, congenital, merosin deficient or partially deficient3<�Carnitine deficiency, myopathicA	j<-Epileptic encephalopathy, early infantile, 389	ct%Charcot-Marie-Tooth disease, type 4B3Z	pFNeuropathy, hereditary motor and sensory, type VIC, with optic atrophyT�p@Humeroradial synostosishumeroradial/multiple synostosis syndrome?	2�+Histiocytosis-lymphadenopathy plus syndrome.	R�Microphthalmia, isolated 5$�bHOMOCARNOSINOSIS6	b9"Pontocerebellar hypoplasia, type 7N	e�:Encephalopathy, progressive, with or without lipodystrophy0	r�Spermatogenic failure 49
�N	tX:Heterotaxy, visceral, 11, autosomal, with male infertility'	a�Joubert syndrome 18V	U�B46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs6	s�"Short stature, Dauber-Argente type&d\Wolfram syndrome 1,�OCULOTRICHODYSPLASIA�:	k &3-methylglutaconic aciduria, type VIII\�HAdrenal hypoplasia, congenital, with absent pituitary luteinizinghormoneQ�t=Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis$�dHYDROXYLYSINURIAS	X�?Inflammatory bowel disease 25, early onset, autosomal recessiveS	c�?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14&	d�HYPERPROLACTINEMIA`�HLNeuropathy, hereditary sensory, with spastic paraplegia, autosomal recessiveE	s�1Facioscapulohumeral muscular dystrophy 4, digenic
�F�2Ehlers-Danlos syndrome, spondylodysplastic type, 1&	h�Heimler syndrome 2L<�8Cardiomyopathy associated with myopathy and sudden deathE1Very long-chain acyl-CoA dehydrogenase deficiencyC�P/Modifier, X-linked, for neurofunctional defects�-�$Mucopolysaccharidosis VII4	]V Deafness, autosomal recessive 748	T�$Osteopetrosis, autosomal recessive 47	l�#Pontocerebellar hypoplasia, type 11F	u�2Cholestasis, progressive familial intrahepatic, 12A	m�-Microcephaly 20, primary, autosomal recessive0	fOrofaciodigital syndrome XIV8��$Osteopetrosis, autosomal recessive 3_	gGKNeurologic, endocrine, and pancreatic disease, multisystem, infantile-onsetC$~/Anemia, sideroblastic, 2, pyridoxine-refractory1b,Deafness-Oligodontia syndromeD	a.0Combined oxidative phosphorylation deficiency 10>	K�*Spastic paraplegia 26, autosomal recessive+	(DRetinitis pigmentosa 143ECervical vertebrae, agenesis of)	CwAnauxetic dysplasia 1Gb�3Dextrocardia with unusual facies and microphthalmia?	e�+Diarrhea 7, protein-losing Enteropathy typeG��3Leg, absence deformity of, with congenital cataract3V�Crigler-Najjar syndrome, type I<	]:(Cardiomyopathy, familial hypertrophic, 7
�'	e3Nemaline myopathy 9((Carpenter syndrome 1&A4Joubert syndrome 1+	\KFrontonasal dysplasia 20��Epidermolytic hyperkeratosis5	7�!Epidermolysis bullosa pruriginosa"28Graves diseaseU	o�AContractures, pterygia, and variable skeletal fusions syndrome 1B	h=Cataract 44>	u�*Spastic paraplegia 87, autosomal recessiveD	t�0Combined oxidative phosphorylation deficiency 554	m� Butyrylcholinesterase deficiency+	T�Meckel syndrome, type 5j	r[VIntellectual developmental disorder with speech delay and axonal peripheral neuropathy=	s�)Cutis laxa, autosomal recessive, type IIEE	>q1Myasthenic syndrome, congenital, 4A, slow-channel%xGitelman syndromeX	i�DImmunodeficiency-Centromeric instability-facial anomalies syndrome 35�!Opticocochleodentate degeneration3FPostaxial acrofacial dysostosisB	S�.Congenital disorder of glycosylation, type IIg5	j5!Hypermanganesemia with dystonia 2H	ii4Hyperphosphatasia with mental retardation syndrome 6>!l*Spastic paraplegia 15, autosomal recessive=	r�)Sulfide:quinone oxidoreductase deficiencyH	r64Mitochondrial complex IV deficiency, nuclear type 18O	-;Mental retardation, microcephaly, epilepsy, and coarse face3��Immunoerythromyeloid hypoplasia$�Alkaptonuria
�4	5� Deafness, autosomal recessive 21A	^7-Ichthyosis, congenital, autosomal recessive 8F	s�2Ciliary dyskinesia, primary, 47, and lissencephaly5	G
!Gaucher disease, perinatal lethalC��/Homocystinuria-megaloblastic anemia, cbl E type&lZBethlem myopathy 1p��\Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)U�xAMethylmalonic aciduria due to methylmalonyl-coa mutase deficiency-	fuSpinocerebellar ataxia 40
�1	7�Keratosis pilaris atrophicans?	m�+Congenital heart defects, multiple types, 5F	n�2Mitochondrial complex I deficiency, nuclear type 2%/6Thymoma, familial>�*Multiple self-healing squamous epithelioma
�8	u�$Myopathy, congenital, nonprogressive2	,�Cerebellar ataxia, Cayman type$	)Band heterotopia6w�"Faciocardiomelic dysplasia, lethali	n�UNeurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizuresB@�.Xeroderma pigmentosum, complementation group G@�d,Cholestasis, benign recurrent intrahepatic 1A	'�-Deafness, neurosensory, autosomal recessive 2(	t�Ovarian dysgenesis 9'	t�Immunodeficiency 96F	[[2Amelogenesis imperfecta, hypomaturation type, iia36	W�"Leukodystrophy, hypomyelinating, 4#�Achromatopsia 3>	t�*Spastic paraplegia 85, autosomal recessiveK	_�7Emery-Dreifuss muscular dystrophy 7, autosomal dominant
�@	B0,Myopathy, distal, with anterior tibial onset&	ugMeckel syndrome 14Bpx.Ehlers-Danlos syndrome, kyphoscoliotic type, 1G/3Thumb agenesis, short stature, and immunodeficiencyO	Q�;Immunodeficiency due to defect in mapbp-interacting protein=	g	)Chronic atrial and intestinal dysrhythmia7/#Thumb, distal hyperextensibility of;	k'Sudden cardiac failure, alcohol-induced+	f.Bardet-Biedl syndrome 4ZFAdrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency8�$Hutchinson-Gilford progeria syndromeH	sK4Popliteal pterygium syndrome, Bartsocas-Papas type 2'	q_Immunodeficiency 66.��Otoonychoperoneal syndromeG�N3Myopathy, congenital, with fiber-type disproportionH�n4Myelodysplasia and leukemia syndrome with monosomy 7&	;Wolfram syndrome 2>Q�*Corneal degeneration, band-shaped spheroidF�j2Mitochondrial complex I deficiency, nuclear type 1;M
'Cleidocranial dysplasia, recessive form/�"Gluteal muscles, absence of#>�Hypotrichosis 82	NComplement factor H deficiency:	.�&Premature aging syndrome, Okamoto type#	M\Majeed syndrome/	Z�Antithrombin III deficiency7	kW#Mucopolysaccharidosis-Plus syndromej	J�VMyasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiencyD	m�0Short-Rib thoracic dysplasia 18 with polydactylySޗ?Thrombophilia due to deficiency of activated protein C cofactor
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ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 119	A�%Melanoma, uveal, susceptibility to, 2
�5	eZ!Atrial fibrillation, familial, 15742#Beemer lethal malformation syndromeU	(pAPachygyria with mental retardation, seizures, and arachnoid cysts'=�Winchester syndrome^	r�JIntellectual developmental disorder with paroxysmal dyskinesia or seizuresX�DRetinitis pigmentosa, deafness, mental retardation, and hypogonadism`	ePLMicrocephaly, progressive, with seizures and cerebral and cerebellar atrophyI	oE5Epidermodysplasia verruciformis, susceptibility to, 5=	S)Mental retardation, autosomal recessive 6\��HCochleosaccular degeneration of the inner ear with progressive cataracts�7n�#Myasthenia, limb-girdle, autoimmune
�KI�3Choroid plexus calcification and mental retardation�C��/Tremor of intention, ataxia, and lipofuscinosis�j	v"VNeurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment*	8�ACERULOPLASMINEMIA
�9	8�%Ataxia-Telangiectasia-Like disorder 1>	S*Mental retardation, autosomal recessive 10,DEnhanced S-cone syndrome-	mGalloway-Mowat syndrome 5=	)))Hereditary motor and sensory neuropathy V
�7	s�#Nephronophthisis-like nephropathy 2I�5Thrombophilia 13, X-linked, due to factor VIII defect
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�7	(4#Parkinson disease, juvenile, type 2\	aPHGlucocorticoid deficiency 4 with or without mineralocorticoid deficiencyC�X/Minicore myopathy with external ophthalmoplegia5	jl!Portal hypertension, noncirrhotic'	r�Immunodeficiency 77
�J	I�2Aicar transformylase/imp cyclohydrolase deficiency�R�h>Hypogonadism with low-grade mental deficiency and microcephalyVNBAmaurosis congenita, cone-rod type, with congenital hypertrichosis4\� Deafness, autosomal recessive 1A?�b+Pancreatic insufficiency, combined exocrine>	_
*Nail disorder, nonsyndromic congenital, 10N	P�:Myasthenic syndrome, congenital, with tubular aggregates 1i%�QAnemia, nonspherocytic hemolytic, associated with abnormality of redcell membrane�B	_U.Spinocerebellar ataxia, autosomal recessive 110	`Microphthalmia, syndromic 11A	p�-Epileptic encephalopathy, early infantile, 82W	O�CCerebellar ataxia, mental retardation, and dysequilibrium syndrome26	+�"Deafness, autosomal recessive 8/10C	p'/Ectodermal dysplasia 15, Hypohidrotic/hair type/�Glycogen storage disease Ia=	]�)Bile acid synthesis defect, congenital, 3'	n|Immunodeficiency 57�	H�Growth failure, microcephaly, mental retardation, cataracts, largejoint contractures, osteoporosis, cortical dysplasia, and cerebellaratrophy3$�Brachyolmia type 1, Hobaek type=	S)Mental retardation, autosomal recessive 9D	o�0Combined oxidative phosphorylation deficiency 39/	T?Cataract 33, multiple types.	b`Nephrotic syndrome, type 7H�R4Metaphyseal dysplasia, anetoderma, and optic atrophyH<z4Cardiac septal defects with coarctation of the aorta&	l#Peho-Like syndromeR�R>Growth retardation, small and puffy hands and feet, and eczema*9�Usher syndrome, type I,	i�Spermatogenic failure 15=	^�)Pyruvate dehydrogenase E1-beta deficiencyX	u
DAnemia, congenital dyserythropoietic, type IIIb, autosomal recessive+	?tRetinitis pigmentosa 28D	iZ0Combined oxidative phosphorylation deficiency 28B	W�.Microtia, hearing impairment, and cleft palateA	+�-Deafness, neurosensory, autosomal recessive 7(	;UMICROHYDRANENCEPHALY5	l�!Deafness, autosomal recessive 106.	mOocyte maturation defect 43wErythroderma, lethal congenital9	h�%Immunodeficiency, common variable, 12
�Ot;Polydactyly, postaxial, with dental and vertebral anomalies�	G��Craniofacial abnormalities, cataracts, congenital heart disease, sacralneural tube defects, and growth and developmental retardationB	/�.Deafness, neurosensory, autosomal recessive 18)	]Cone-rod dystrophy 15=�#)Bile acid synthesis defect, congenital, 2"-V3-M syndrome 16��"Ceroid lipofuscinosis, neuronal, 5/�TMucolipidosis II alpha/beta8	O�$3-@methylglutaconic aciduria, type V:%x&Iron-Refractory iron deficiency anemiam	ezYNeurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalitiesQ	K!=Nephropathy with pretibial epidermolysis bullosa and deafnessD	oS0Myasthenic syndrome, congenital, 25, presynaptic/	aCardiomyopathy, dilated, 2B]��IHirschsprung disease with hypoplastic nails and dysmorphic facialfeatures9	o�%Fetal akinesia deformation sequence 4,	^�Hydrolethalus syndrome 2+	CSenior-Loken syndrome 4.	k#Uncombable hair syndrome 2Q�N=Cutaneous mastocytosis, conductive hearing loss, and microtia5�\!Myasthenia, limb-girdle, familial)	-zPatent ductus venosus,	+0Budd-Chiari syndrome
�/	maGlucocorticoid deficiency 5,�8Aland island eye disease�f	n�RMicrocephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome^��JGRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVEt	-S`Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis=	\|)Agammaglobulinemia 2, autosomal recessive3Polydactyly, postaxial, type A5>	Q�*Mitochondrial phosphate carrier deficiency=	k�)Cutis laxa, autosomal recessive, type IICN	^�:Short-Rib thoracic dysplasia 7 with or without polydactyly4�� Obesity-Hypoventilation syndromeK�7Molybdenum cofactor deficiency, complementation group B>	_�*Mental retardation, autosomal recessive 29'	c�Nephronophthisis 16c	W�OHemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathyS	[?Inflammatory bowel disease 28, early onset, autosomal recessive1bhDermochondrocorneal dystrophy4	`� Deafness, autosomal recessive 86s	@"_Mental retardation, microcephaly, growth retardation, joint contractures,and facial dysmorphism6�H"Grouped pigmentation of the macula3	l�Polydactyly, postaxial, type A7<	b(Lethal congenital contracture syndrome 4+�LFrank-ter Haar syndrome'	d�Immunodeficiency 19*	R�XFE progeroid syndromec	s�OMuscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome=	."%Neural tube defects, folate-sensitive�_	U�KEpilepsy, progressive myoclonic 3, with or without intracellular inclusionsh	a\TInterstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenitalB	t.Usmani-Riazuddin syndrome, autosomal recessive7	d>#Interstitial lung and liver disease@	9x,Ectodermal dysplasia/skin fragility syndromeB	s�.Spinocerebellar ataxia, autosomal recessive 307	g�#Leukodystrophy, hypomyelinating, 10>	V�*Spastic paraplegia 39, autosomal recessiveC	Z�/Hemophagocytic lymphohistiocytosis, familial, 5+I�Chorea, benign familialJ	]�6Complement component 3 deficiency, autosomal recessiveB��.Ciliary dyskinesia with excessively long ciliaSL?Periodic fever, immunodeficiency, and thrombocytopenia syndrome>5�*Bietti crystalline corneoretinal dystrophy6	e�"Pontocerebellar hypoplasia, type 9?	o�+Body mass index quantitative trait locus 20w	p�cNeurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomaliesD	r0Combined oxidative phosphorylation deficiency 49<�B(Trichothiodystrophy 4, nonphotosensitive5�!Methionine malabsorption syndrome4	g Amelogenesis imperfecta, type IH0	ddMicrophthalmia, syndromic 12B	i�.Spinocerebellar ataxia, autosomal recessive 220	_�Pancreatic lipase deficiency:	E�&Hypereosinophilic syndrome, idiopathic�2�Prolactin deficiency, isolatedA	k{-Epileptic encephalopathy, early infantile, 51'[�D-glyceric aciduria$1�ATRANSFERRINEMIAD	g/0Combined oxidative phosphorylation deficiency 244	N� Deafness, autosomal recessive 47G	o
3Mitochondrial complex I deficiency, nuclear type 29O	u�;Intellectual developmental disorder, autosomal recessive 76A	a�-Peroxisome biogenesis disorder 7A (zellweger)9�V%Holocarboxylase synthetase deficiency.�Blount disease, adolescentB	i�.Spinocerebellar ataxia, autosomal recessive 23n	`�ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 76
"Radiculoneuropathy, fatal neonatal>	i#*Mental retardation, autosomal recessive 51H	]4Mitochondrial DNA depletion syndrome 4B (mngie type)4	N� Glutamine deficiency, congenital/	l�Nephrotic syndrome, type 15_	l�KEncephalopathy, progressive, early-onset, with brain atrophy and spasticityM	q�9Heterotaxy, visceral, 9, autosomal, with male infertilityO	[H;Intellectual developmental disorder, autosomal recessive 13&پMoyamoya disease 1w	u�cNeurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies\	p�HNeurodevelopmental disorder with epilepsy, spasticity, and brain atrophyD Y,Sodium-Potassium-Atpase activity of red cell�2��Galactose epimerase deficiencyD	n�0Myasthenic syndrome, congenital, 23, presynaptic,	nkSpermatogenic failure 292q�Encephalomalacia, multilocular2	sqOsteootohepatoenteric syndrome</Y Thymic-Renal-Anal-Lung dysplasia2�<�(Trichorhinophalangeal syndrome, type III�;	m�'Fanconi anemia, complementation group SA	j�-Epileptic encephalopathy, early infantile, 44,�8Galactokinase deficiency36Aganglionosis, total intestinalH	d4Epidermolysis bullosa simplex, autosomal recessive 28	L$Charcot-marie-tooth disease, type 4H*D�Ceroid storage disease6	h\"Epilepsy, progressive myoclonic, 912�Atrioventricular dissociationi	tKUDevelopmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities$�@Paragangliomas 1
�A	,H)Lissencephaly type III and bone dysplasia�@	E�,Charcot-Marie-Tooth disease, axonal, type 2H4	ty Hengel-Maroofian-Schols syndrome..Aspartylglucosaminuria�5��!Ghosal hematodiaphyseal dysplasia7	Z�#Liver failure, infantile, transient)	e�Cone-Rod dystrophy 19Mޖ9Muscular dystrophy, adult-onset, with leukoencephalopathy=	b<)Cholestasis, intrahepatic, of pregnancy 3E	u1Epidermolysis bullosa, junctional 4, intermediate9	o�%Spastic ataxia 9, autosomal recessive�	fGlCataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.	R�Microphthalmia, isolated 39	+�%Epilepsy, familial adult myoclonic, 1
�I	oC5Epidermodysplasia verruciformis, susceptibility to, 4	i�Cataract 454	Z� Deafness, autosomal recessive 774	U5 Primary lateral sclerosis, adult
�;	B{'Immunodeficiency with hyper-igm, type 3O	j�;Intellectual developmental disorder with cardiac arrhythmiaj��VMullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly;��'Discrimination, two-point, reduction in�7	OO#Ceroid lipofuscinosis, neuronal, 10D	r10Combined oxidative phosphorylation deficiency 51Z	ZJFGrowth retardation, developmental delay, coarse facies, and earlydeath;	m8'Fanconi anemia, complementation group W&	8�Nephronophthisis 35�!Retinal degeneration and epilepsyC	s�/Central hypoventilation syndrome, congenital, 32gLactase deficiency, congenital-	�Cockayne syndrome, type B3	]�Ciliary dyskinesia, primary, 15NՆ:Microcephaly and chorioretinopathy, autosomal recessive, 1Q	o*=Hyper-Ige recurrent infection syndrome 3, autosomal recessive5ʂ!Manitoba oculotrichoanal syndrome' Rodrigues blindness\	j�HNeurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetF�2Acyl-Coa dehydrogenase, short-chain, deficiency of+��Spermatogenic failure 25	^-!Acetyl-CoA carboxylase deficiency;	q�'Hypoparathyroidism, familial isolated 2&	IuJoubert syndrome 37	[#Parkinsonism-Dystonia, infantile, 10�2Cognitive function 1, social�=	gV)Bile acid synthesis defect, congenital, 5M	]9Rajab interstitial lung disease with brain calcifications#�fHyperopia, highW	_�CMultiple mitochondrial dysfunctions syndrome 2 with hyperglycinemiaR	j[>Neurodevelopmental disorder with microcephaly and gray scleraeL	88Congenital cataracts, facial dysmorphism, and neuropathy;��'Paget disease of bone 5, juvenile-onset0�<Myoclonic epilepsy of Lafora3��Mucopolysaccharidosis type IIIAI	)	1Osteopetrosis and infantile neuroaxonal dystrophy�0	1iEncephalopathy, ethylmalonicX0@Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
�C	6�/Leukoencephalopathy with vanishing white matter(	5�Xanthinuria, type II-դGalloway-mowat syndrome 1#rPrenatal bowing+	S>Meckel syndrome, type 4'	qJoubert syndrome 36�Myxedema9	\�%Epilepsy, familial adult myoclonic, 3
�O	r;Rajab interstitial lung disease with brain calcifications 2D	k�0Autoinflammation with arthritis and dyskeratosis>	_�*Mental retardation, autosomal recessive 24(0�Athrombia, essentialW�CAfibrinogenemia, congenitalhypofibrinogenemia, congenital, included-	P4Retinal cone dystrophy 3BMt`5Epidermodysplasia verruciformis, susceptibility to, 1�z	+�fTibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies'	a�Immunodeficiency 28C�/Myasthenic syndrome, congenital, 6, presynapticNZ�:Cystinosis, late-onset juvenile or adolescent nephropathic/	sAlzahrani-Kuwahara syndrome' �Amyotonia congenita'	n�Immunodeficiency 587Hn#Otospondylomegaepiphyseal dysplasia(	_�46,xy sex reversal 8B	-.Chorea, remitting, with nystagmus and cataract,	t}Spermatogenic failure 598�t$Immunodeficiency, common variable, 2W	u�CDevelopmental and epileptic encephalopathy 105 with hypopituitarism@
,Epidermolysis bullosa dystrophica, pretibial5	B�!Albinism, oculocutaneous, type IB6	)"Tibial muscular dystrophy, tardive
�S��;Myopathy, granulovacuolar lobular, with electrical myotonia�A	C�-Congenital disorder of glycosylation, type IgQ	JD=Carnitine palmitoyltransferase II deficiency, lethal neonatal.&�Angiolipomatosis, familial'	p&Immunodeficiency 640	]�Cataract, posterior polar, 2VC�:Cerebral sclerosis similar to pelizaeus-merzbacher disease��:	rs&Cardiofacioneurodevelopmental syndrome)|�Fibrochondrogenesis 1D	b"0Combined oxidative phosphorylation deficiency 142� Split-Hand/foot malformation 3<	_E(Neuropathy, hereditary sensory, type IIC%	hAl-Raqad syndrome<	t�(Trichothiodystrophy 9, nonphotosensitive4	N Deafness, autosomal recessive 283 Sea-Blue histiocyte disease
�@	(9,Rhizomelic chondrodysplasia punctata, type 3(	b@Carpenter syndrome 2/	n�Cardiomyopathy, dilated, 2CBW�.Cutaneous photosensitivity and colitis, lethal5	H�!Familial adenomatous polyposis, 2+	]�Retinitis pigmentosa 40k	1gWShort stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalitiesF	u(2Epidermolysis bullosa, junctional 5A, intermediate<	>(Fanconi anemia, complementation group D13	dLCiliary dyskinesia, primary, 26G�z3Humeroradial synostosis with craniofacial anomaliesJ	P�6Camptodactyly, tall stature, and hearing loss syndrome;�'Hyperphenylalaninemia, BH4-deficient, DN	o�:Spondyloepimetaphyseal dysplasia with joint laxity, type 39��%Immunoosseous dysplasia, Schimke type"	_=3-M syndrome 3.}�Fibrosclerosis, multifocal'	c'Immunodeficiency 56M	H	9Deafness, congenital neurosensory, autosomal recessive 39)�BOsteoma of middle ear$	(kGonadal agenesis+	m�Retinitis pigmentosa 81T	I�@Deafness, autosomal recessive 32, with or without immotile sperm0\2Ritscher-Schinzel syndrome 15	l�!Deafness, autosomal recessive 108"�Leigh syndromef	L�RCerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndromeB	aG.Congenital disorder of glycosylation, type IIK3	n�Polydactyly, postaxial, type A97	h�#Epilepsy, progressive myoclonic, 10K	bt7Epidermolysis bullosa, nonspecific, autosomal recessiven	b�ZMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10r	tR^Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies&=�Immune suppression
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Restrictive dermopathy 1(	f�Nemaline myopathy 10[	i4GSpastic paraplegia and psychomotor retardation with or without seizuresi	N�QEctodermal dysplasia, sensorineural hearing loss, and distinctive facial features�Q	r�=Immunodeficiency 78 with autoimmunity and developmental delayd	GiPEpilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp+��Kifafa seizure disorder<	S�(Muscular dystrophy, limb-girdle, type 2L/	d�Otofaciocervical syndrome 21�Immunoglobulin A deficiency 1>	S�*Spastic paraplegia 18, autosomal recessive0	m�Diamond-Blackfan anemia-like+	jgMeier-Gorlin syndrome 7C|�/Fibromatosis, gingival, with distinctive facies4�6 Vasculitis, lymphocytic, nodular�D|0Retinal telangiectasia and hypogammaglobulinemiaL	S8Polyhydramnios, megalencephaly, and symptomatic epilepsyD	P�0Spondyloepimetaphyseal dysplasia, Genevieve type>E*Klippel-Feil syndrome, autosomal recessive�	p�nNeurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomaliesOPp;Convulsive disorder, familial, with prenatal or early onset-�Maple syrup urine diseaseI
�5Absent eyebrows and eyelashes with mental retardationE�L1Neutropenia, lethal congenital, with eosinophiliaH	a]4Hyperphosphatasia with mental retardation syndrome 26A�Cerebral angiopathy, dysphoric�'	B\Fumarase deficiency+	`�UV-sensitive syndrome 3>�`*Chronic recurrent multifocal osteomyelitis:k�&Muscular atrophy, malignant neurogenic
�>hD&Disseminated sclerosis with narcolepsy�3��Mucopolysaccharidosis type IIIB4b< Meralgia paraesthetica, familial�Y	s�EMyasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive7	a3#Brown-Vialetto-Van laere syndrome 2d	ePVasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome#	)�Schizophrenia 3�A	='-Cholestasis, benign recurrent intrahepatic, 2=v�)Transient erythroblastopenia of childhood/	F"Acrocapitofemoral dysplasia#	8�Hypotrichosis 7,�Renal tubular dysgenesis+	gsSenior-Loken syndrome 8M	P9Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa<	T)(Lethal congenital contracture syndrome 3#	_�Sclerosteosis 2D	qc0Combined oxidative phosphorylation deficiency 437	J�#Ataxia, sensory, autosomal dominant
�j	l	VNeurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesA	K�-Congenital disorder of glycosylation, type IF7	s%#Pontocerebellar hypoplasia, type 14D	qV0Combined oxidative phosphorylation deficiency 41B	bp.Ichthyosis, congenital, autosomal recessive 10T	n�@Mitochondrial complex V (ATP synthase) deficiency nuclear type 5G	S63Mitochondrial complex I deficiency, nuclear type 203�BTranscobalamin I deficiency�;	^�'Mosaic variegated aneuploidy syndrome 2N	D�:Intellectual developmental disorder, autosomal recessive 2%	]�Seckel syndrome 5s	G�_Lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones>	YS*Polymicrogyria, bilateral temporooccipital/(�Anosmia for isobutyric acidA	q(-Epileptic encephalopathy, early infantile, 84S	,�?Porencephaly, cerebellar hypoplasia, and internal malformations-	N�Retinal cone dystrophy 3A"	l�Helix syndromeG	j.3Autoimmune disease, multisystem, infantile-onset, 2-<LWaardenburg-Shah syndrome	L`Cataract 356�|"Fructose and galactose intoleranceJ!�6Amyotrophic lateral sclerosis, juvenile, with dementiaK	Cp7Spinal muscular atrophy, distal, autosomal recessive, 3A�-Lipodystrophy, congenital generalized, type 2c�|OLipid storage myopathy due to flavin adenine dinucleotide synthetase deficiencyB	>.Multiple mitochondrial dysfunctions syndrome 15	N!Peeling skin syndrome, Acral type-��Hemochromatosis, neonatal7D#Leber congenital amaurosis, type II8	Ej$Immunodeficiency, common variable, 12	n�Bone marrow failure syndrome 44	P	 Cold-Induced sweating syndrome 2P��<Ornithine transcarbamylase deficiency, hyperammonemia due to
�C	0W/Medium chain 3-ketoacyl-coa thiolase deficiency<	aX(Facial paresis, hereditary congenital, 3$	.2Paragangliomas 2
�D	qS0Combined oxidative phosphorylation deficiency 40`	]�LHyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndromeT	I�@Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type/	,bMicrophthalmia, syndromic 9U	]'AMental retardation, anterior maxillary protrusion, and strabismus%	)Succinic acidemiaA�p-Hypophosphatemic rickets, autosomal recessive>	[V*Spastic paraplegia 44, autosomal recessiveNG�:Cholestasis with gallstone, ataxia, and visual disturbance6	K"Ceroid lipofuscinosis, neuronal, 9V	*�BDeafness, autosomal recessive 4, with enlarged vestibular aqueduct/	^�Hermansky-Pudlak syndrome 62��Ciliary dyskinesia, primary, 1/:�Orofaciodigital syndrome VII	P{5Cone-Rod synaptic disorder, congenital nonprogressive*	eaDesbuquois dysplasia 2>	bv*Spastic paraplegia 56, autosomal recessive;#�'Spinocerebellar ataxia with dysmorphismO	e�;Intellectual developmental disorder, autosomal recessive 43^	hSJPolymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposisH	r.4Mitochondrial complex IV deficiency, nuclear type 11p#�\Spinocerebellar degeneration with macular corneal dystrophy, congenitalcataracts, and myopia<	f�(Monocarboxylate transporter 1 deficiency9�2%Mercaptolactate-Cysteine disulfiduriaG�3Ankyloblepharon-Ectodermal defects-cleft lip/palate�2	oLymphoproliferative syndrome 3k	p�WNeurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia;3�#Tricarboxylic acid cycle, defect of�3GtCholestasis-Lymphedema syndromeA�-Myopathy, myosin storage, autosomal recessive)Acrocallosal syndromeE	=�-Charcot-Marie-Tooth disease, axonal, type 2B2
�L%4Anemia, hypochromic microcytic, with iron overload 1�4	^� Deafness, autosomal recessive 29B	m�.Multiple mitochondrial dysfunctions syndrome 6R	L>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1*�Reticulum cell sarcoma+	q�Retinitis pigmentosa 90>	n�*Mental retardation, autosomal recessive 66+	(WBardet-Biedl syndrome 3/2Hypercalcemia, infantile, 1B	kh.Ichthyosis, congenital, autosomal recessive 12F=�2Palmoplantar keratoderma and congenital alopecia 20�$Macrosomia adiposa congenitaI	u�5Developmental delay, hypotonia, and impaired language0�R	-L>Microcephaly, corpus callosum dysgenesis, and cleft lip/palate+y�Fanconi-Bickel syndromeH	I�4Neuropathy, hereditary sensory and autonomic, type V'	m!Joubert syndrome 31<	Gc(Muscular dystrophy, limb-girdle, type 2D7#Retinohepatoendocrinologic syndrome+	qJRetinitis pigmentosa 880	ZPremature ovarian failure 10*��Osteoporosis, juvenileU�AEpilepsy, progressive myoclonic, 4, with or without renal failure,��Hydrolethalus syndrome 1G	r&3Mitochondrial complex IV deficiency, nuclear type 3U	)�ACleft palate, cardiac defect, genital anomalies, and ectrodactylyG	-3Holoprosencephaly, semilobar, with craniosynostosis";:Cahmr syndromeJ	h]6Short stature, microcephaly, and endocrine dysfunctionW	cdCCerebellar ataxia, mental retardation, and dysequilibrium syndrome4RӰ>Methemoglobinemia due to deficiency of methemoglobin reductase6	a�"Peroxisome biogenesis disorder 11BV�dBNonarteritic anterior ischemic optic neuropathy, susceptibility toJ	p 6Mitochondrial DNA depletion syndrome 16 (hepatic type)?	f]+Ectodermal dysplasia/short stature syndrome9	t�%Craniotubular dysplasia, Ikegawa typeB	\q.Congenital disorder of glycosylation, type IIjH	r24Mitochondrial complex IV deficiency, nuclear type 14"Refsum disease2	R$Ciliary dyskinesia, primary, 6$v�Ermine phenotypeT	_7@Nephrotic syndrome, type 5, with or without ocular abnormalities+8Frontonasal dysplasia 1^4�JBerry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification`	qiLDiabetes mellitus, permanent neonatal 3, with or without neurologic features<	I�(Cardiomyopathy, familial hypertrophic, 8C	1�/Muscular dystrophy, congenital, Megaconial typeD	h�0Combined oxidative phosphorylation deficiency 27%d�DIAMINOPENTANURIAE�X1Neurodegeneration with brain iron accumulation 2A/	^�Hermansky-Pudlak syndrome 39	PB%Diarrhea 4, malabsorptive, congenital/	^�Heme oxygenase-1 deficiency:jz&Mullerian aplasia and hyperandrogenism2B	e.Spinocerebellar ataxia, autosomal recessive 15B	k�.Hyperphenylalaninemia, MILD, non-bh4-deficient"dLaron syndrome0	^�N-ACETYLASPARTATE DEFICIENCYx	a�dT-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS'	k7Nephronophthisis 206	sQ"Dysostosis multiplex, Ain-Naz typeU	p�AMitochondrial complex V (ATP synthase) deficiency, nuclear type 66	d�"Myopathy with extrapyramidal signsn	+�ZEpidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive8| Fetal iodine deficiency disorder�F	e�2Amelogenesis imperfecta, hypomaturation type, iia5'	Y�Immunodeficiency 10J	l�6Vertebral, cardiac, renal, and limb defects syndrome 2?;�+Camptodactyly syndrome, guadalajara, type I>	_�*Mental retardation, autosomal recessive 31B	a�.Peroxisome biogenesis disorder 11A (Zellweger))x�Factor VII deficiency>	j�*Mental retardation, autosomal recessive 56(	=mCone-Rod dystrophy 8/	^�Hermansky-Pudlak syndrome 8#��Osteoid osteoma@H<,Rhizomelic chondrodysplasia punctata, type 1>	a�*Spastic paraplegia 53, autosomal recessive/<�Wernicke-Korsakoff syndrome-Gastric lymphoma, primary
�/��Geroderma osteodysplasticum#	hEAchromatopsia 7/	skCardiomyopathy, dilated, 2D.	l{Birk-Landau-Perez syndromeBw�.Facial dysmorphism with multiple malformations]��IThrombophilia, hereditary, due to protein C deficiency, autosomaldominant�&	t�Noonan syndrome 14Qb�=Persistent hyperplastic primary vitreous, autosomal recessive)	q.Beck-Fahrner syndrome+	H|Retinitis pigmentosa 26g	q�SImmunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia%�D
Mast syndrome
�D	d�0Combined oxidative phosphorylation deficiency 18!	s�
VISS syndrome.�,Nephrotic syndrome, type 1DÒ0Radiation sensitivity of natural killer activity
�)0Ataxia-telangiectasiaC	r�/Erythrokeratodermia variabilis et progressiva 7O	+J;Ectodermal dysplasia with mental retardation and syndactyly=�)Friedreich ataxia and congenital glaucomaD	q�0Combined oxidative phosphorylation deficiency 47R��6Inosine phosphorylase deficiency, immune defect due to�
�(ʦSpinal arachnoiditis�+	f1Bardet-Biedl syndrome 8:9�&Vacterl association with hydrocephalus,�Myopia, infantile severe4	L� Deafness, autosomal recessive 48]��IGlutathione synthetase deficiency of erythrocytes, hemolytic anemiadue to!	)�
ABCD syndrome'	`Joubert syndrome 148	T�$Osteopetrosis, autosomal recessive 64	I5 Deafness, autosomal recessive 35`	s*LNeurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasiaE	r�1Proteasome-associated autoinflammatory syndrome 52Multiple endocrine neoplasia 1
�A	a�-Peroxisome biogenesis disorder 4A (Zellweger)C	p;/Night blindness, congenital stationary, type 1I#�4Cousin syndrome>�v*Metaphyseal chondrodysplasia, Kaitila type7	V�#Coenzyme Q10 deficiency, primary, 4=	j�)Lethal congenital contracture syndrome 115	ZDGlycogen storage disease XIII
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