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� Adult onset , 1g Abnormal inflammatory response 0 1^"Abnormal nervous system physiology ZOnset 0 1_"Abnormal nervous system morphology - Autosomal recessive inheritance > �0Morphological central nervous system abnormality 3 �%Abnormality of metabolism/homeostasis ' 0�Abnormal brain morphology 5 *�'Abnormality of immune system physiology 2Clinical modifier # �)Mendelian inheritance * + Abnormal cellular physiology ! Mode of inheritance < `.Abnormality of the hypothalamus-pituitary axis |5Clinical course 1 2#Abnormality of the endocrine system - )� Abnormality of the diencephalon + �� Abnormal forebrain morphology . /� Abnormal hypothalamus physiology - 1h Decreased inflammatory response / �!Abnormality of the nervous system 3 cn%Abnormal CSF metabolite concentration $ vPhenotypic abnormality .
� Abnormality of the immune system <
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� ��CCDC40 � i�DNAI1 � !� V s� BDevelopmental delay, impaired speech, and behavioral abnormalities � ^ +� FTetra-Amelia with ectodermal dysplasia and lacrimal duct abnormalities � F @� .Xeroderma pigmentosum, complementation group F � M t` 5Epidermodysplasia verruciformis, susceptibility to, 1 � : 4 "Pseudouridinuria and mental defect � 5 ?6 Premature centromere division � ] �� EMyasthenia, congenital, refractory to acetylcholinesterase inhibitors � < � (Trichorhinophalangeal syndrome, type III � 2 � HYPERLEUCINE-ISOLEUCINEMIA � " z4 GONADOBLASTOMA � V C� :Cerebral sclerosis similar to pelizaeus-merzbacher disease � � ( e$ DIASTEMATOMYELIA � 6 A� Cerebral angiopathy, dysphoric � , �� Wolf-Hirschhorn syndrome � ) �� Zinc, elevated plasma � H <c 0Congenital disorder of glycosylation, type I/IIx � D 1� ,Thyroid hormonogenesis, genetic defect in, 5 � < /Y Thymic-Renal-Anal-Lung dysplasia 2 � / *6 UV-sensitive syndrome 1 � C �P /Modifier, X-linked, for neurofunctional defects � ? �T +Klippel-Feil syndrome 1, autosomal dominant � ̌ Cervical rib � & � HYPOASCORBEMIA � F l .Pseudohermaphroditism, male, with gynecomastia � H X 0Interstitial pneumonitis, desquamative, familial � P � <Vertebral fusion, posterior lumbosacral, with blepharoptosis � & =� Immune suppression
� @ ]+ ,Chromosome 17q11.2 deletion syndrome, 1.4-mb � ( F Sjogren syndrome � : E� &Hypereosinophilic syndrome, idiopathic � D Ò 0Radiation sensitivity of natural killer activity
� L B9 4GLUT1 deficiency syndrome 1, infantile onset, severe � 8 � $Cardiac valvular dysplasia, X-linked � 2 �� Peroneal nerve, accessory deep � 2 �� Properdin deficiency, X-linked � Q I� 9Ciliary discoordination due to random ciliary orientation � ' wN Ethanolaminosis � i %� QAnemia, nonspherocytic hemolytic, associated with abnormality of redcell membrane � & 4 Dermatitis, atopic � . . Aspartylglucosaminuria � # )� Schizophrenia 3 � , P� Koolen-De Vries syndrome � - b^ DERMATOLEUKODYSTROPHY � D Y ,Sodium-Potassium-Atpase activity of red cell � C N| +Collagenosis, familial reactive perforating � = � %Platelet prostacyclin receptor defect � + 5� Biemond syndrome II 2 4 �6 Vasculitis, lymphocytic, nodular � M T 5Neuropathy, hereditary sensory and autonomic, type II � J � 2Insensitivity to pain, congenital, with anhidrosis
� - �b Lymphokine deficiency � \ �x @Intrinsic factor and R binder, combined congenital deficiency of � � - �~ Echo virus 11 sensitivity
� 4 �� Magnesium, elevated red cell � A )AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF � C �� /Tremor of intention, ataxia, and lipofuscinosis � \ �� HCochleosaccular degeneration of the inner ear with progressive cataracts � = ." %Neural tube defects, folate-sensitive � ! �t
Paraoxonase 1 � 0 �2 Cognitive function 1, social � R ;H :Visceral myopathy, familial, with external ophthalmoplegia � 9 ,� %Neuronal intestinal dysplasia, type B � . �� Thumbs, congenital clasped � > �� *Vestibulocochlear dysfunction, progressive � ] �� IThrombophilia, hereditary, due to protein C deficiency, autosomaldominant � 9 �� !Larsen-like syndrome, Lethal type � % �
Hooft disease � ? Ѽ 'Metaphyseal chondrodysplasia, Pena type � 0 s� Myopia 2, autosomal dominant � , �8 Aland island eye disease � F �� 2Membranoproliferative glomerulonephritis, X-linked � 4 � Oculorenocerebellar syndrome � 5 �Z Monocyte chemotactic disorder � D � (Pseudovaginal perineoscrotal hypospadias 2 � 3 F� Microphthalmia, syndromic 6 ` � H &� 0Sucrosuria, hiatus hernia and mental retardation � : 3( "Tinea imbricata, susceptibility to � 5 R� Macular dystrophy, corneal, 1 � I u� 5Developmental delay, hypotonia, and impaired language 0� - � Pituitary dwarfism IV � 7 �| Granulomas, congenital cerebral � � ) �� Myasthenia gravis 2
� - Glomuvenous malformations � ; �� 'Discrimination, two-point, reduction in � ( � NEPHROSIALIDOSIS � / v" EPILEPSY-TELANGIECTASIA � 7 ƨ #Spatial visualization, aptitude for � K I� 3Choroid plexus calcification and mental retardation � i N� QEctodermal dysplasia, sensorineural hearing loss, and distinctive facial features � I ƚ 1Lymphoblastic transformation, intrinsic defect in � 7 � #Spinal muscular atrophy, X-linked 2 � F .Congenital disorder of glycosylation, type IIc � r J� ZDrug metabolism, poor, cyp2d6-relateddrug metabolism, ultrarapid, cyp2d6-related, included � C Ɔ +Lymphoblastic transformation, inhibition of � % 8�
Salla disease � ( ʦ Spinal arachnoiditis � # jH Motion sickness � ; 3� #Tricarboxylic acid cycle, defect of � & � Hay-Wells syndrome � - �� Fingerprint body myopathy � N - 6Arthrogryposis multiplex congenita with whistling face � + RC Potocki-Lupski syndrome � @ - (Thanatophoric dysplasia, glasgow variant � 8 Š $Miller-Dieker lissencephaly syndrome � = �� %Immunoglobulin D level in plasma, low
� R G! >Encephalopathy, acute, infection-induced, susceptibility to, 3
� 3 <p Cardiac lipidosis, familial � 4 �~ Neutrophil actin dysfunction � : �� "Ceroid lipofuscinosis, neuronal, 1 � 6 � Myeloperoxidase deficiency �
� / �| Polycystic ovary syndrome 1 � . � Leprosy, susceptibility to
� A � -Globulin anomaly involving beta (2a)-globulin
� 8 | Fetal iodine deficiency disorder � / � Progesterone resistance � 2 �� Jumping frenchman of maine � 3 J� Citrulline transport defect � A P� )THIOPURINE S-METHYLTRANSFERASE DEFICIENCY � * ( Macrocytosis, familial � " 8 Short syndrome
� R �� 6Inosine phosphorylase deficiency, immune defect due to �
� O �� 7Polycystic liver disease 1 with or without kidney cysts �
� _ �) GMitochondrial myopathy with A defect in mitochondrial-protein transport � , �D Myopathy, congenital � * � Smith-Magenis syndrome
� ; �� 'Allergic bronchopulmonary aspergillosis
� * ?@ Cephalin lipidosis � : � &Ectodermal dysplasia with adrenal cyst 2 P �* <Spondyloepiphyseal dysplasia with punctate corneal dystrophy � S �� ;Myopathy, granulovacuolar lobular, with electrical myotonia � q p� ]Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0� = � )Spondyloarthropathy, susceptibility to, 2 � ( �l White sponge nevus 1 � E �� 1Anemia, sideroblastic, and spinocerebellar ataxia � = �@ )Roussy-Levy hereditary areflexic dystasia
� 7 P Conotruncal heart malformations � . (] Hemifacial spasm, familial � ! z PYGMY 2 � 4 #� Anemia, autoimmune hemolytic � 4 b< Meralgia paraesthetica, familial � 2 K� Griscelli syndrome, type 3 � + 6� T-SUBSTANCE ANOMALY � ) �� Acetylation, slow � : � "Alpha-2-deficient collagen disease � J N� 2Systemic lupus erythematosus, susceptibility to, 6 �
� S �� ?Candidiasis, familial chronic mucocutaneous, autosomal dominant 2 3 �B Transcobalamin I deficiency � Dk 6 H� "Cutaneous collagenous vasculopathy � h Glioblastoma 1^ 4 � Ataxia-oculomotor apraxia type 1 � P 7 <Autosomal recessive hyperinsulinism due to Kir6.2 deficiency � ( �� Trehalase deficiency v 5� ALG8-CDG � ( � Prolidase deficiency
� L i` 4Hemophagocytic syndrome associated with an infection � 1g & � Norrie disease )� *� 1 + X-linked adrenoleukodystrophy � . : Erythroderma desquamativum *� * { Fetal alcohol syndrome *� ) `� Localized scleroderma � !
Rett syndrome � 1 , Neonatal adrenoleukodystrophy � I �$ 5Developmental and speech delay due to SOX5 deficiency 0� /
� Papilloma of choroid plexus 1_ # � CHARGE syndrome *� M � 9Congenital muscular dystrophy with cerebellar involvement 0� m YEctodermal dysplasia-intellectual disability-central nervous system malformation syndrome *� �
Meningioma /� , x Dermatitis herpetiformis � '
o Neu-Laxova syndrome 1_ z �� fMicrocephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 0� B �� .Autosomal recessive spastic paraplegia type 20 0� P Ԕ <SATB2-associated syndrome due to a chromosomal rearrangement � * F 1p36 deletion syndrome
� F �u 23-hydroxy-3-methylglutaryl-CoA synthase deficiency � # -� Majeed syndrome 1g ( & Optic pathway glioma � 3 �� Crimean-Congo hemorrhagic fever � M 5� 5Methylmalonic acidemia with homocystinuria, type cblC � 0� H �� 0Koolen-De Vries syndrome due to a point mutation � 0� " Lead poisoning
� 5 C !Persistent idiopathic facial pain � D v 0Holoprosencephaly-postaxial polydactyly syndrome ` d � PMale infertility with azoospermia or oligozoospermia due to single gene mutation v , Schwartz-Jampel syndrome *� * � Incontinentia pigmenti *� [ � GIchthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome � �
SRD5A3-CDG 0� H �� 4Pruritic urticarial papules and plaques of pregnancy
� 0 B Exstrophy-epispadias complex 0� = O� )Mucopolysaccharidosis type 2, severe form � B .Succinic semialdehyde dehydrogenase deficiency � > P� *Progressive multifocal leukoencephalopathy � 0 m Hereditary methemoglobinemia � ? � +Autosomal recessive malignant osteopetrosis � 5
!Ghosal hematodiaphyseal dysplasia *� 6 ]Q "Joubert syndrome with renal defect ` : � &Catastrophic antiphospholipid syndrome � ; 'Joubert syndrome with oculorenal defect ` 5� ALG2-CDG � D `� 0Autism spectrum disorder due to AUTS2 deficiency 0� 5� ALG3-CDG 2 8 �X $Extracranial carotid artery aneurysm � 3 ( Idiopathic camptocormia �
� 1g %
Cysticercosis � 0� 7 u� #Non-syndromic posterior hypospadias 2 � Malaria � * �� Lujo hemorrhagic fever � ! f
Down syndrome *� p Hg \Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome � 4 & Schimke immuno-osseous dysplasia � $ � Joubert syndrome ` C
& /Mitochondrial myopathy and sideroblastic anemia � 7 �L #Periventricular nodular heterotopia 1_ f � RDYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion 2 , � Polyarteritis nodosa � � < � (Metachromatic leukodystrophy, adult form � O � ;Microcephaly-brain defect-spasticity-hypernatremia syndrome � ) � Williams syndrome )� 1_ A -Autosomal recessive spondylocostal dysostosis *� ( �� Aregenerative anemia *� H �� 4Resistance to thyrotropin-releasing hormone syndrome � % � Mosaic trisomy 15 � - � Chédiak-Higashi syndrome � O G� ;Severe phosphoribosylpyrophosphate synthetase superactivity � 2 U Septo-optic dysplasia spectrum ` -
{ Infantile spasms syndrome � 8 � $Chronic intestinal pseudoobstruction 1_ 5 �� !Hypohidrotic ectodermal dysplasia *� E -� 1Chronic visceral acid sphingomyelinase deficiency � B � .Hereditary hyperferritinemia-cataract syndrome � { |c gRapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome ` 9 %Mosaic variegated aneuploidy syndrome *� a � MIntellectual disability-hypoplastic corpus callosum-preauricular tag syndrome *� Tetrasomy X *� 5 � !Isolated focal cortical dysplasia � & F Solitary bone cyst � k I� WAHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome 0� Q � =Megalencephaly-capillary malformation-polymicrogyria syndrome 1_ Q =Laminin subunit alpha 2-related congenital muscular dystrophy � - �3 Postinfectious vasculitis � 0 � Imerslund-Gräsbeck syndrome � 7 6� #Multiple endocrine neoplasia type 4 2 ) d Ataxia-telangiectasia
� @ �' ,Pancreatic triacylglycerol lipase deficiency � 2 �� Atypical juvenile parkinsonism 1^ %
� Osteomesopyknosis � " �n FRAXF syndrome v * { Coccidioidomycosis � 2 Y � EHomocystinuria due to methylene tetrahydrofolate reductase deficiency � 4 $ Congenital enterovirus infection � & # Propionic acidemia *� ! `�
Blau syndrome 1g / _� Diffuse alveolar hemorrhage � M ' 9Isolated asymptomatic elevation of creatine phosphokinase v > h� *Multiple acyl-CoA dehydrogenase deficiency v D _� 0Shiga toxin-associated hemolytic uremic syndrome � 1 ] Aplasia cutis-myopia syndrome 1_ N � :Congenital muscular dystrophy with intellectual disability � A � -Carnitine palmitoyl transferase 1A deficiency � 2 ~ Stiff person spectrum disorder � ) � Diencephalic syndrome ` * � Snakebite envenomation � 0 | Neurofibromatosis type 1 � 2 > � *Inverted duplicated chromosome 15 syndrome 0� : _ &Nasopalpebral lipoma-coloboma syndrome � P
<Intellectual disability-polydactyly-uncombable hair syndrome *� . �, Cerebral visual impairment 0� " } Bloom syndrome
� T � @Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome � C �� +Idiopathic non-lupus full-house nephropathy �
� ; � 'Cerebellar ataxia-hypogonadism syndrome ` @ � ,Carnitine palmitoyltransferase II deficiency 0� " M Farber disease � B 5� .Congenital glucokinase-related hyperinsulinism 1^ @ u ,Holoprosencephaly-caudal dysgenesis syndrome )� ? � +Hydrocephalus-obesity-hypogonadism syndrome ` 4c Preeclampsia � < �� (Dimethylglycine dehydrogenase deficiency � " � Acrodysostosis *� 0 �� Hereditary angioedema type 1 � ( � Diabetic embryopathy � ] � I46,XY difference of sex development due to 5-alpha-reductase 2 deficiency 2 M n� 5Midline interhemispheric variant of holoprosencephaly 2 /� 9 `� %Autosomal recessive cutis laxa type 1 � q
]Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome )� : mp &Pediatric systemic lupus erythematosus � A � -Microphthalmia with brain and digit anomalies ` $ M� AGel amyloidosis � & b GM1 gangliosidosis � ; � 'Allergic bronchopulmonary aspergillosis
� ) { Dermatoleukodystrophy 1_ u
MAN1B1-CDG 0� ' 6q Porphyria variegata � ? �< +Porphyria due to ALA dehydratase deficiency � ! ��
Eales disease � # Kabuki syndrome *� " 4 Arachnoid cyst 2 . � Congenital lobar emphysema *� / _� Sepsis in premature infants *� 2 �w 1q41q42 microdeletion syndrome � Pentasomy X *� ) h Mowat-Wilson syndrome � 5 6 !Chronic mucocutaneous candidiasis
� + �g Erdheim-Chester disease *� 2 6U Pseudopseudohypoparathyroidism 2 y �� eBrain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome 0� Y �� EImmune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 2 8 � $Joubert syndrome with hepatic defect ` w I cNephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome � 5 !Familial benign copper deficiency *� 8 �. $Transient neonatal diabetes mellitus � 6 �J "Early-onset X-linked optic atrophy 1^ \ HIntellectual disability-craniofacial dysmorphism-cryptorchidism syndrome 0� U 5� AHypoxanthine guanine phosphoribosyltransferase partial deficiency � � V lFacial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion 0� 3 . Epidermodysplasia verruciformis
� ? � +Metachromatic leukodystrophy, juvenile form � � Polyembryoma 2 0 m� Primary hyperoxaluria type 1 � - 5� GM1 gangliosidosis type 1 � �
Acromegaly 2 , �5 Epidermal nevus syndrome 0� . 5� Biotinidase deficiency �
� 5� MGAT2-CDG 2 . ? Spondyloenchondrodysplasia � K
� 3Oculocerebral hypopigmentation syndrome, Preus type )� *� + Galloway-Mowat syndrome *� 1 Ԇ 2q31.1 microdeletion syndrome ` . � Primary ciliary dyskinesia � 5 wy !7q11.23 microduplication syndrome � �F ALG13-CDG 0� Q �� 9Brachydactyly-short stature-retinitis pigmentosa syndrome � 2 4 K Diffuse neonatal hemangiomatosis � " y Laron syndrome 2
Mycetoma � * A Limb body wall complex � < �� (Homozygous familial hypercholesterolemia 1^ $ � Pearson syndrome � 4 _P Rothmund-Thomson syndrome type 1 *� " Y POEMS syndrome 2 � Thymoma � B �� .Autosomal recessive spastic paraplegia type 15 v 1 jn Primary Sjögren syndrome � � ! +�
ADNP syndrome 0� " Refsum disease � 4 _X Rothmund-Thomson syndrome type 2 *� & T Fanconi anemia ` 1_ & �� Aceruloplasminemia � ( � Monomelic amyotrophy
� ( �� Citrullinemia type I � / 3� Brain-lung-thyroid syndrome � E � 1Metachromatic leukodystrophy, late infantile form � . A Cerebrooculonasal syndrome 1_ - � Fibrous dysplasia of bone 2 , � Adrenocortical carcinoma � - � Refractory celiac disease � ( �� Isolated exencephaly 0� ? N� +Infection-related hemolytic uremic syndrome � ; � 'Exercise-induced malignant hyperthermia �
C syndrome *� 5� ALG12-CDG � 5
!Toriello-Lacassie-Droste syndrome 1_ B � .Pancreatic agenesis-holoprosencephaly syndrome 0� * �U X-linked acrogigantism � I 5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency � 5 � !Herpes simplex virus encephalitis 0� % � Mosaic trisomy 16 � ) � Cheilitis glandularis *� ^ Sialuria � ! �
Leptospirosis � # Brucellosis � � - 4� Foix-Alajouanine syndrome � 8 5� $Pyruvate dehydrogenase E2 deficiency � 3 �6 Galactose mutarotase deficiency � 6 V "Atypical hemolytic uremic syndrome � ' '+ Proboscis lateralis � ) n Bardet-Biedl syndrome 2 ( 5� Classic galactosemia � 6
"X-linked immunoneurologic disorder 1^ : � &Autoerythrocyte sensitization syndrome � , Axenfeld-Rieger syndrome ` Z � FMitochondrial myopathy with reversible cytochrome C oxidase deficiency � / 6q25 microdeletion syndrome 1_ ( d Distal monosomy 7q36 *� c a OIntellectual disability-obesity-brain malformations-facial dysmorphism syndrome 0� * � Leydig cell hypoplasia v E 6# 1Keratoderma hereditarium mutilans with ichthyosis � > � *Purine nucleoside phosphorylase deficiency � 4 � Granulomatosis with polyangiitis ` M G� 9Mild phosphoribosylpyrophosphate synthetase superactivity � ! �
COFS syndrome *� B U .Fetal and neonatal alloimmune thrombocytopenia � 7 �) #Thrombotic thrombocytopenic purpura � # M$ BRESEK syndrome 0� # ra SLC35A2-CDG �
� F � 2Normosmic congenital hypogonadotropic hypogonadism v ? � +Intellectual disability-strabismus syndrome 0� /
9 African trypanosomiasis � 2 7 -� Morgagni-Stewart-Morel syndrome � 2 e �p QMendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency *� ! E�
Calciphylaxis � 9 d %Triose phosphate-isomerase deficiency *� + d Simple cryoglobulinemia � P {� <Carnitine palmitoyl transferase II deficiency, neonatal form 0� F �� 2Mowat-Wilson syndrome due to a ZEB2 point mutation � E �m 1Combined oxidative phosphorylation defect type 23 � 7 �� 17q21.31 microdeletion syndrome � 0� % r Holoprosencephaly 1_ 7 ]M #Joubert syndrome with ocular defect ` 7 * #Axial mesodermal dysplasia spectrum � ? � 'Peroxisomal acyl-CoA oxidase deficiency � 1_ > �� *Mowat-Wilson syndrome due to monosomy 2q22 � : & &Hereditary neurocutaneous malformation � H 4Progressive non-infectious anterior vertebral fusion � 0 � 22q11.2 duplication syndrome *� $ p Bartter syndrome � 1 | 5q14.3 microdeletion syndrome 1_ % � Benign schwannoma � ) ? Muckle-Wells syndrome � ?
� +Neutropenia-monocytopenia-deafness syndrome *� , � 46,XX gonadal dysgenesis � [ �� GPURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2 , Ժ 8p11.2 deletion syndrome ` - �� Congenital vertical talus � & � Sickle cell anemia � + � Osteogenesis imperfecta � , �� Isolated osteopoikilosis 2 / Ԧ 6p22 microdeletion syndrome 1_ ,
: American trypanosomiasis � 5� ALG6-CDG � : + &Neuromyelitis optica spectrum disorder 0� % N Alpha-thalassemia *� 9 u %Pituitary stalk interruption syndrome ` > �\ *Polymicrogyria with optic nerve hypoplasia � k �? WAutoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome 2 ? w� +Maternal uniparental disomy of chromosome 4 � 0 n� Alobar holoprosencephaly 2 /� , Wolf-Hirschhorn syndrome
� _ � GShort stature-brachydactyly-obesity-global developmental delay syndrome 2 0� 0 'G Congenital tracheal stenosis � 3 _� Hereditary folate malabsorption
� ( Abetalipoproteinemia � ? +Familial hemophagocytic lymphohistiocytosis � . 4� Intermediate osteopetrosis � O b� ;Congenital lipoid adrenal hyperplasia due to STAR deficency � - �� Macular corneal dystrophy � A P -Mucopolysaccharidosis type 2, attenuated form �
@ Tularemia � '
� Opitz GBBB syndrome 0� @ � ,Genetic steroid-resistant nephrotic syndrome � A � -Megalocornea-intellectual disability syndrome *� X � DGlycogen storage disease due to phosphoglycerate kinase 1 deficiency 1^ / n� Lobar holoprosencephaly 2 /� # � Pycnodysostosis � r qt ^Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 2 5� MPI-CDG � 9 !Glutathione synthetase deficiency � *� Q �
=Severe congenital hypochromic anemia with ringed sideroblasts ` ^ �� JTHOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0� - j� Temple-Baraitser syndrome 0� V � BMale infertility with teratozoospermia due to single gene mutation v 3 14q22q23 microdeletion syndrome ` B 5� *Pyruvate dehydrogenase E1-alpha deficiency � 0� V 2 BShort stature-deafness-neutrophil dysfunction-dysmorphism syndrome *� 3 \� Semilobar holoprosencephaly 2 /�