GABA-transaminase deficiency, (3), Autosomal recessive

Transcription

1 ID & Epilepsy panel versie v1 (juli 2017) Centrum voor Medische Genetica Gent Gene A2ML1 AARS AASS ABAT ABCC8 ABCC9 ABCD1 ABCD4 ABHD5 ACAD9 Associated phenotype, OMIM ID Charcot-Marie-Tooth disease, axonal, type 2N, (3), Autosomal ; Epileptic encephalopathy, early infantile, 29, (3), Hyperlysinemia, (3), ; Saccharopinuria, (1), GABA-transaminase deficiency, (3), Diabetes mellitus, noninsulin-dependent, (3), Autosomal ; Diabetes mellitus, permanent neonatal, (3), Autosomal ; Diabetes mellitus, transient neonatal 2, (3); Hyperinsulinemic hypoglycemia, familial, 1, (3),, Autosomal ; Hypoglycemia of infancy, leucine-sensitive, (3), Autosomal Atrial fibrillation, familial, 12, (3), Autosomal ; Cardiomyopathy, dilated, 1O, (3); Hypertrichotic osteochondrodysplasia, (3), Autosomal Adrenoleukodystrophy, (3), X-linked ; Adrenomyeloneuropathy, adult, (3), X- linked Methylmalonic aciduria and homocystinuria, cblj type, (3), Chanarin-Dorfman syndrome, (3), Mitochondrial complex I deficiency due to ACAD9 deficiency, (3), ACO2 Infantile cerebellar-retinal degeneration, (3), ;?Optic atrophy 9, (3), ACOX1 Peroxisomal acyl-coa oxidase deficiency, (3), ACSF3 Combined malonic and methylmalonic aciduria, (3) ACSL4 Mental retardation, X-linked 63, (3), X-linked ACTB Baraitser-Winter syndrome 1, (3), Autosomal ;?Dystonia, juvenile-onset, (3), Autosomal ACTG1 Baraitser-Winter syndrome 2, (3), Autosomal ; Deafness, autosomal 20/26, (3), Autosomal ACVR1 Fibrodysplasia ossificans progressiva, (3), Autosomal ACY1 Aminoacylase 1 deficiency, (3), ADAM22 ADAR Aicardi-Goutieres syndrome 6, (3), ; Dyschromatosis symmetrica hereditaria, (3), Autosomal ADAT3 Mental retardation, autosomal 36, (3), ADGRG1 Polymicrogyria, bilateral frontoparietal, (3), ; Polymicrogyria, bilateral perisylvian, (3) ADK Hypermethioninemia due to adenosine kinase deficiency, (3), ADNP Helsmoortel-van der Aa syndrome, (3), Autosomal ADSL Adenylosuccinase deficiency, (3), AFF2 Mental retardation, X-linked, FRAXE type, (3), X-linked AFF4 CHOPS syndrome, (3), Autosomal AFG3L2 Spastic ataxia 5, autosomal, (3), ; Spinocerebellar ataxia 28, (3), Autosomal AGA Aspartylglucosaminuria, (3), AGO2 AGPAT2 Lipodystrophy, congenital generalized, type 1, (3), AGTR2 AHCY Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, (3), Autosomal AHDC1 Xia-Gibbs syndrome, (3), Autosomal AHI1 Joubert syndrome 3, (3),

2 AIFM1 AIMP1 AK1 AKT3 ALDH18A1 Combined oxidative phosphorylation deficiency 6, (3), X-linked ; Cowchock syndrome, (3), X-linked ; Deafness, X-linked 5, (3), X-linked Leukodystrophy, hypomyelinating, 3, (3), Hemolytic anemia due to adenylate kinase deficiency, (3), Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, (3), Autosomal Cutis laxa, autosomal 3, (3), Autosomal ; Cutis laxa, autosomal, type IIIA, (3),, Isolated cases; Spastic paraplegia 9A, autosomal, (3), Autosomal ; Spastic paraplegia 9B, autosomal, (3), ALDH3A2 Sjogren-Larsson syndrome, (3), ALDH4A1 Hyperprolinemia, type II, (3), ALDH5A1 Succinic semialdehyde dehydrogenase deficiency, (3), ALDH7A1 Epilepsy, pyridoxine-dependent, (3), ALG1 Congenital disorder of glycosylation, type Ik, (3), ALG11 Congenital disorder of glycosylation, type Ip, (3), ALG12 Congenital disorder of glycosylation, type Ig, (3) ALG13?Congenital disorder of glycosylation, type Is, (3), X-linked ; Epileptic encephalopathy, early infantile, 36, (3), X-linked ALG2?Congenital disorder of glycosylation, type Ii, (3), ; Myasthenic syndrome, congenital, 14, with tubular aggregates, (3), ALG3 Congenital disorder of glycosylation, type Id, (3), ALG6 Congenital disorder of glycosylation, type Ic, (3), ALG8 Congenital disorder of glycosylation, type Ih, (3) ALG9 Congenital disorder of glycosylation, type Il, (3); Gillessen-Kaesbach-Nishimura syndrome, (3), ALMS1 Alstrom syndrome, (3), ALX1?Frontonasal dysplasia 3, (3) ALX4 AMACR AMMECR1 AMPD2 AMT ANK3 ANKH ANKLE2 ANKRD11 ANO10 ANTXR1 AP1S1 AP1S2 AP3B1 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 {Craniosynostosis 5, susceptibility to}, (3), Autosomal ; Frontonasal dysplasia 2, (3), ; Parietal foramina 2, (3), Autosomal Alpha-methylacyl-CoA racemase deficiency, (3), ; Bile acid synthesis defect, congenital, 4, (3), Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, (3), X-linked Pontocerebellar hypoplasia, type 9, (3), ;?Spastic paraplegia 63, (3), Glycine encephalopathy, (3),?Mental retardation, autosomal, 37, (3), Chondrocalcinosis 2, (3), Autosomal ; Craniometaphyseal dysplasia, (3), Autosomal?Microcephaly 16, primary, autosomal, (3), KBG syndrome, (3), Autosomal Spinocerebellar ataxia, autosomal 10, (3), GAPO syndrome, (3), ; {Hemangioma, capillary infantile, susceptibility to}, (3), Autosomal MEDNIK syndrome, (3), Mental retardation, X-linked syndromic 5, (3), X-linked Hermansky-Pudlak syndrome 2, (3), Epileptic encephalopathy, early infantile, 48, (3), Spastic paraplegia 47, autosomal, (3), Spastic paraplegia 51, autosomal, (3), ; Stuttering, familial persistent, 1, (3), Autosomal Spastic paraplegia 50, autosomal, (3), Spastic paraplegia 52, autosomal, (3),

3 APC2 APOPT1 APTX ARFGEF2 ARG1 ARHGAP31 ARHGEF6 ARHGEF9 ARID1A ARID1B ARID2 ARL13B ARL6?Sotos syndrome 3, (3), Mitochondrial complex IV deficiency, (3),, Mitochondrial Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, (3), Periventricular heterotopia with microcephaly, (3), Argininemia, (3), Adams-Oliver syndrome 1, (3), Autosomal Mental retardation, X-linked 46, (3), X-linked Epileptic encephalopathy, early infantile, 8, (3), X-linked Coffin-Siris syndrome 2, (3), Autosomal Coffin-Siris syndrome 1, (3), Autosomal Joubert syndrome 8, (3), {Bardet-Biedl syndrome 1, modifier of}, (3),, Digenic ; Bardet-Biedl syndrome 3, (3), ;?Retinitis pigmentosa 55, (3) ARSA Metachromatic leukodystrophy, (3), ARSE Chondrodysplasia punctata, X-linked, (3), X-linked Epileptic encephalopathy, early infantile, 1, (3), X-linked ; Hydranencephaly with ARX abnormal genitalia, (3), X-linked; Lissencephaly, X-linked 2, (3), X-linked; Mental retardation, X-linked 29 and others, (3), X-linked ; Partington syndrome, (3), X- linked ; Proud syndrome, (3), X-linked ASAH1 Farber lipogranulomatosis, (3), ; Spinal muscular atrophy with progressive myoclonic epilepsy, (3), ASCL1 Central hypoventilation syndrome, congenital, (3), Autosomal ; Haddad syndrome, (3), Autosomal ASL Argininosuccinic aciduria, (3), ASNS Asparagine synthetase deficiency, (3), ASPA Canavan disease, (3), ASPM Microcephaly 5, primary, autosomal, (3), ASS1 Citrullinemia, (3), ASXL1 Bohring-Opitz syndrome, (3), Autosomal ; Myelodysplastic syndrome, somatic, (3) ASXL2 Shashi-Pena syndrome, (3), Autosomal ASXL3 Bainbridge-Ropers syndrome, (3) ATAD3A Harel-Yoon syndrome, (3),, Autosomal ATCAY Ataxia, cerebellar, Cayman type, (3), ATIC AICA-ribosiduria due to ATIC deficiency, (3), ATN1 Dentatorubro-pallidoluysian atrophy, (3), Autosomal ATP1A2 ATP1A3 ATP2A2 ATP6AP2 ATP6V0A2 ATP6V1B2 ATP7A ATP8A2 Alternating hemiplegia of childhood, (3), Autosomal ; Migraine, familial basilar, (3), Autosomal ; Migraine, familial hemiplegic, 2, (3), Autosomal Alternating hemiplegia of childhood 2, (3), Autosomal ; CAPOS syndrome, (3), Autosomal ; Dystonia-12, (3), Autosomal Acrokeratosis verruciformis, (3), Autosomal ; Darier disease, (3), Autosomal Mental retardation, X-linked, syndromic, Hedera type, (3), X-linked ;?Parkinsonism with spasticity, X-linked, (3), X-linked Cutis laxa, autosomal, type IIA, (3), ; Wrinkly skin syndrome, (3), Deafness, congenital, with onychodystrophy, autosomal, (3), Autosomal ; Zimmermann-Laband syndrome 2, (3), Autosomal Menkes disease, (3), X-linked ; Occipital horn syndrome, (3), X-linked ; Spinal muscular atrophy, distal, X-linked 3, (3), X-linked?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, (3),

4 ATPAF2 ATR ATRX ATRX AUH AUTS2 AVPR2 B3GALNT2 B3GALT6 B3GLCT B4GALNT1 B4GALT1 B4GALT7 B4GAT1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCKDHA BCKDHB BCL11A BCOR BCORL1 BCS1L BLM BOLA3 BRAF BRAT1 BRF1 BRWD3 BSCL2 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, (3),?Cutaneous telangiectasia and cancer syndrome, familial, (3), Autosomal ; Seckel syndrome 1, (3), Mental retardation, X-linked 52, (2), X-linked Alpha-thalassemia myelodysplasia syndrome, somatic, (3); Alpha-thalassemia/mental retardation syndrome, (3), X-linked ; Mental retardation-hypotonic facies syndrome, X-linked, (3), X-linked 3-methylglutaconic aciduria, type I, (3), Mental retardation, autosomal 26, (3), Autosomal Diabetes insipidus, nephrogenic, (3), X-linked ; Nephrogenic syndrome of inappropriate antidiuresis, (3), X-linked Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, (3), Ehlers-Danlos syndrome, progeroid type, 2, (3), ; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, (3), Peters-plus syndrome, (3), Spastic paraplegia 26, autosomal, (3), Congenital disorder of glycosylation, type IId, (3), Ehlers-Danlos syndrome with short stature and limb anomalies, (3), Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, (3), Bardet-Biedl syndrome 1, (3),, Digenic Bardet-Biedl syndrome 10, (3), Bardet-Biedl syndrome 12, (3), Bardet-Biedl syndrome 2, (3), ; Retinitis pigmentosa 74, (3), Bardet-Biedl syndrome 4, (3), Bardet-Biedl syndrome 5, (3), Bardet-Biedl syndrome 7, (3), Bardet-Biedl syndrome 9, (3), Deafness, dystonia, and cerebral hypomyelination, (3), X-linked Maple syrup urine disease, type Ia, (3), Maple syrup urine disease, type Ib, (3), Dias-Logan syndrome, (3), Autosomal Microphthalmia, syndromic 2, (3), X-linked Bjornstad syndrome, (3), ; GRACILE syndrome, (3); Leigh syndrome, (3),, Mitochondrial; Mitochondrial complex III deficiency, nuclear type 1, (3), Bloom syndrome, (3), Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, (3), Adenocarcinoma of lung, somatic, (3); Cardiofaciocutaneous syndrome, (3), Autosomal ; Colorectal cancer, somatic (3); LEOPARD syndrome 3, (3), Autosomal ; Melanoma, malignant, somatic (3); Nonsmall cell lung cancer, somatic (3); Noonan syndrome 7, (3), Autosomal Rigidity and multifocal seizure syndrome, lethal neonatal, (3), Cerebellofaciodental syndrome, (3), Mental retardation, X-linked 93, (3), X-linked Encephalopathy, progressive, with or without lipodystrophy, (3), ; Lipodystrophy, congenital generalized, type 2, (3), ; Neuropathy, distal hereditary motor, type VA, (3), Autosomal ; Silver spastic paraplegia syndrome, (3), Autosomal

5 BTD BUB1B C12orf4 C12orf57 C12orf65 C2CD3 C5orf42 CA2 CA5A Biotinidase deficiency, (3), Colorectal cancer, somatic, (3); Mosaic variegated aneuploidy syndrome 1, (3), ; [Premature chromatid separation trait], (3), Autosomal Temtamy syndrome, (3), Combined oxidative phosphorylation deficiency 7, (3), ; Spastic paraplegia 55, autosomal, (3),?Orofaciodigital syndrome XIV, (3), Joubert syndrome 17, (3), ; Orofaciodigital syndrome VI, (3), Osteopetrosis, autosomal 3, with renal tubular acidosis, (3), Hyperammonemia due to carbonic anhydrase VA deficiency, (3), CA8 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, (3), Epileptic encephalopathy, early infantile, 42, (3), Autosomal ; Episodic ataxia, type 2, CACNA1A (3), Autosomal ; Migraine, familial hemiplegic, 1, (3), Autosomal ; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, (3), Autosomal ; Spinocerebellar ataxia 6, (3), Autosomal CACNA1C Brugada syndrome 3, (3); Timothy syndrome, (3), Autosomal CACNA1E CACNA2D1 CACNG2?Mental retardation, autosomal 10, (3) CAD Epileptic encephalopathy, early infantile, 50, (3), CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation, (3), Autosomal CAPN10 {Diabetes mellitus, noninsulin-dependent 1}, (3) CASK FG syndrome 4, (3); Mental retardation and microcephaly with pontine and cerebellar hypoplasia, (3), X-linked ; Mental retardation, with or without nystagmus, (3)?Juvenile myelomonocytic leukemia, (3), Autosomal, Somatic mutation; Noonan CBL syndrome-like disorder with or without juvenile myelomonocytic leukemia, (3), Autosomal CBS Homocystinuria, B6-responsive and nonresponsive types, (3), ; Thrombosis, hyperhomocysteinemic, (3), CC2D1A Mental retardation, autosomal 3, (3), CC2D2A COACH syndrome, (3), ; Joubert syndrome 9, (3), Autosomal ; Meckel syndrome 6, (3), CCBE1 Hennekam lymphangiectasia-lymphedema syndrome 1, (3), CCDC174 Hypotonia, infantile, with psychomotor retardation, (3), CCDC22 Ritscher-Schinzel syndrome 2, (3), X-linked CCDC78 Myopathy, centronuclear, 4, (3), Autosomal CCDC88C Hydrocephalus, nonsyndromic, autosomal, (3), ;?Spinocerebellar ataxia 40, (3), Autosomal CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, (3), Autosomal CDH15 Mental retardation, autosomal 3, (3) CDK5RAP2 Microcephaly 3, primary, autosomal, (3), CDK6?Microcephaly 12, primary, autosomal, (3), CDKL5 Epileptic encephalopathy, early infantile, 2, (3), X-linked CDKN1C Beckwith-Wiedemann syndrome, (3), Autosomal ; IMAGE syndrome, (3), Autosomal CDON Holoprosencephaly 11, (3), Autosomal, Isolated cases CENPJ Microcephaly 6, primary, autosomal, (3), ;?Seckel syndrome 4, (3),

6 CEP135 Microcephaly 8, primary, autosomal, (3), CEP152 Microcephaly 9, primary, autosomal, (3), ; Seckel syndrome 5, (3),?Bardet-Biedl syndrome 14, (3), ; Joubert syndrome 5, (3), CEP290 ; Leber congenital amaurosis 10, (3); Meckel syndrome 4, (3), ; Senior-Loken syndrome 6, (3), CEP41 Joubert syndrome 15, (3), CEP63?Seckel syndrome 6, (3), CEP83 Nephronophthisis 18, (3), CEP89 CHAMP1 Mental retardation, autosomal 40, (3), Autosomal CHD2 Epileptic encephalopathy, childhood-onset, (3), Autosomal CHD3 CHD4 Sifrim-Hitz-Weiss syndrome, (3), Autosomal CHD7 CHARGE syndrome, (3), Autosomal ; Hypogonadotropic hypogonadism 5 with or without anosmia, (3) CHD8 {Autism, susceptibility to, 18}, (3), Autosomal CHKB Muscular dystrophy, congenital, megaconial type, (3), CHRNA2 Epilepsy, nocturnal frontal lobe, type 4, (3), Autosomal CHRNA4 Epilepsy, nocturnal frontal lobe, 1, (3), Autosomal ; {Nicotine addiction, susceptibility to}, (3) CHRNB2 Epilepsy, nocturnal frontal lobe, 3, (3) CIC CIT Microcephaly 17, primary, autosomal, (3), CKAP2L Filippi syndrome, (3), CLCN4 Mental retardation, X-linked 49/15, (3), X-linked CLCNKB Bartter syndrome, type 3, (3), ; Bartter syndrome, type 4b, digenic, (3), Digenic CLDN16 Hypomagnesemia 3, renal, (3), CLDN19 Hypomagnesemia 5, renal, with ocular involvement, (3), CLIC2?Mental retardation, X-linked, syndromic 32, (3), X-linked CLIP1 CLN3 Ceroid lipofuscinosis, neuronal, 3, (3), CLN5 Ceroid lipofuscinosis, neuronal, 5, (3), CLN6 Ceroid lipofuscinosis, neuronal, 6, (3), ; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, (3), CLN8 Ceroid lipofuscinosis, neuronal, 8, (3), ; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, (3), CLP1 Pontocerebellar hypoplasia, type 10, (3), CLPB 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, (3), CNKSR2 CNNM2 Hypomagnesemia 6, renal, (3), Autosomal ; Hypomagnesemia, seizures, and mental retardation, (3),, Autosomal CNTN2?Epilepsy, myoclonic, familial adult, 5, (3), CNTNAP2 {Autism susceptibility 15}, (3); Cortical dysplasia-focal epilepsy syndrome, (3); Pitt- Hopkins like syndrome 1, (3) COASY Neurodegeneration with brain iron accumulation 6, (3), COG1 Congenital disorder of glycosylation, type IIg, (3) COG4 Congenital disorder of glycosylation, type IIj, (3), COG5 Congenital disorder of glycosylation, type IIi, (3) COG6 Congenital disorder of glycosylation, type IIl, (3), ; Shaheen syndrome, (3), COG7 Congenital disorder of glycosylation, type IIe, (3) COG8 Congenital disorder of glycosylation, type IIh, (3)

7 COL4A1 COL4A2 COL4A3BP COLEC11 COQ2 COQ4 COQ8A COQ9 COX10 COX15 COX6B1 CPA6 CPS1 CPT2 CRADD CRBN CREBBP CRLF1 CSNK2A1 CSPP1 CSTB CTBP1 CTCF CTDP1 CTNNB1 CTNND1 CTNND2 CTSA CTSD CTSF CTTNBP2 CUBN CUL4B CWF19L1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, (3), Autosomal ; Brain small vessel disease with or without ocular anomalies, (3), Autosomal ; {Hemorrhage, intracerebral, susceptibility to}, (3); Porencephaly 1, (3), Autosomal ;?Retinal arteries, tortuosity of, (3), Autosomal {Hemorrhage, intracerebral, susceptibility to}, (3); Porencephaly 2, (3), Autosomal Mental retardation, autosomal 34, (3), Autosomal 3MC syndrome 2, (3), Coenzyme Q10 deficiency, primary, 1, (3), ; {Multiple system atrophy, susceptibility to}, (3),, Autosomal Coenzyme Q10 deficiency, primary, 7, (3), Coenzyme Q10 deficiency, primary, 4, (3), Coenzyme Q10 deficiency, primary, 5, (3), Leigh syndrome due to mitochondrial COX4 deficiency, (3),, Mitochondrial; Mitochondrial complex IV deficiency, (3),, Mitochondrial Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, (3), ; Leigh syndrome due to cytochrome c oxidase deficiency, (3), Autosomal, Mitochondrial Mitochondrial complex IV deficiency, (3),, Mitochondrial Epilepsy, familial temporal lobe, 5, (3),, Autosomal ; Febrile seizures, familial, 11, (3), Carbamoylphosphate synthetase I deficiency, (3), ; {Pulmonary hypertension, neonatal, susceptibility to}, (3); {Venoocclusive disease after bone marrow transplantation} (3) CPT II deficiency, infantile, (3), ; CPT II deficiency, lethal neonatal, (3), ; CPT II deficiency, myopathic, stress-induced, (3),, Autosomal ; {Encephalopathy, acute, infection-induced, 4, susceptibility to}, (3),, Autosomal Mental retardation, autosomal 34, with variant lissencephaly, (3), Mental retardation, autosomal 2, (3), Rubinstein-Taybi syndrome 1, (3), Autosomal Cold-induced sweating syndrome 1, (3), Okur-Chung neurodevelopmental syndrome, (3), Autosomal Joubert syndrome 21, (3), Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), (3), Mental retardation, autosomal 21, (3), Autosomal Congenital cataracts, facial dysmorphism, and neuropathy, (3), Colorectal cancer, somatic, (3); Hepatocellular carcinoma, somatic, (3); Medulloblastoma, somatic, (3); Mental retardation, autosomal 19, (3), Autosomal ; Ovarian cancer, somatic, (3); Pilomatricoma, somatic, (3) Galactosialidosis, (3), Ceroid lipofuscinosis, neuronal, 10, (3), Ceroid lipofuscinosis, neuronal, 13, Kufs type, (3), Megaloblastic anemia-1, Finnish type, (3), Mental retardation, X-linked, syndromic 15 (Cabezas type), (3), X-linked Spinocerebellar ataxia, autosomal 17, (3),

8 CYB5R3 CYP27A1 CYP2U1 D2HGDH DAG1 DARS2 DBT DCAF17 DCC DCHS1 DCPS DCX Methemoglobinemia, type I, (3), ; Methemoglobinemia, type II, (3), Cerebrotendinous xanthomatosis, (3), Spastic paraplegia 56, autosomal, (3), D-2-hydroxyglutaric aciduria, (3), Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, (3), ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, (3), Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, (3), Maple syrup urine disease, type II, (3), Woodhouse-Sakati syndrome, (3), Colorectal cancer, somatic, (3); Esophageal carcinoma, somatic, (3); Mirror movements 1, (3), Autosomal Mitral valve prolapse 2, (3), Autosomal ; Van Maldergem syndrome 1, (3), Al-Raqad syndrome, (3), Lissencephaly, X-linked, (3), X-linked; Subcortical laminal heteropia, X-linked, (3), X-linked DDC Aromatic L-amino acid decarboxylase deficiency, (3), DDHD2 Spastic paraplegia 54, autosomal, (3), DDX11 Warsaw breakage syndrome, (3), DDX3X Mental retardation, X-linked 102, (3), X-linked, X-linked DEAF1?Dyskinesia, seizures, and intellectual developmental disorder, (3), ; Mental retardation, autosomal 24, (3), Autosomal DENND5A Epileptic encephalopathy, early infantile, 49, (3) DEPDC5 Epilepsy, familial focal, with variable foci 1, (3), Autosomal DHCR24 Desmosterolosis, (3), DHCR7 Smith-Lemli-Opitz syndrome, (3), DHFR DHTKD1 DIAPH1 DIP2B DKC1 DLAT DLD DLG3 DLG4 DMD DMPK DNAJC12 DNAJC19 DNAJC5 DNM1 DNMT3A DNMT3B DOCK6 DOCK7 DOLK DONSON Megaloblastic anemia due to dihydrofolate reductase deficiency, (3), 2-aminoadipic 2-oxoadipic aciduria, (3), ;?Charcot-Marie-Tooth disease, axonal, type 2Q, (3), Autosomal Deafness, autosomal 1, (3), Autosomal ; Seizures, cortical blindness, microcephaly syndrome, (3), Mental retardation, FRA12A type, (3), Autosomal Dyskeratosis congenita, X-linked, (3), X-linked Pyruvate dehydrogenase E2 deficiency, (3), Dihydrolipoamide dehydrogenase deficiency, (3), Mental retardation, X-linked 90, (3), X-linked Becker muscular dystrophy, (3), X-linked ; Cardiomyopathy, dilated, 3B, (3), X- linked; Duchenne muscular dystrophy, (3), X-linked Myotonic dystrophy 1, (3), Autosomal Hyperphenylalaninemia, mild, non-bh4-deficient, (3), 3-methylglutaconic aciduria, type V, (3), Ceroid lipofuscinosis, neuronal, 4, Parry type, (3), Autosomal Epileptic encephalopathy, early infantile, 31, (3), Autosomal Tatton-Brown-Rahman syndrome, (3), Autosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 1, (3), Adams-Oliver syndrome 2, (3), Epileptic encephalopathy, early infantile, 23, (3), Congenital disorder of glycosylation, type Im, (3),

9 DPAGT1 Congenital disorder of glycosylation, type Ij, (3), ; Myasthenic syndrome, congenital, 13, with tubular aggregates, (3), DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair, (3), Autosomal DPM1 Congenital disorder of glycosylation, type Ie, (3), DPM2 Congenital disorder of glycosylation, type Iu, (3), DPP6 Mental retardation, autosomal 33, (3); {Ventricular fibrillation, paroxysmal familial, 2}, (3), Autosomal DPYD Dihydropyrimidine dehydrogenase deficiency, (3), ; 5-fluorouracil toxicity, (3), DPYS Dihydropyrimidinuria, (3), DYM Dyggve-Melchior-Clausen disease, (3), ; Smith-McCort dysplasia, (3), Charcot-Marie-Tooth disease, axonal, type 20, (3), Autosomal ; Mental retardation, DYNC1H1 autosomal 13, (3), Autosomal ; Spinal muscular atrophy, lower extremitypre 1, AD, (3), Autosomal DYRK1A Mental retardation, autosomal 7, (3), Autosomal EBP Chondrodysplasia punctata, X-linked, (3), X-linked ; MEND syndrome, (3), X-linked EDC3?Mental retardation, autosomal 50, (3), EEF1A2 Epileptic encephalopathy, early infantile, 33, (3), Autosomal ; Mental retardation, autosomal 38, (3), Autosomal EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type, (3), Autosomal EGF Hypomagnesemia 4, renal, (3) EHMT1 Kleefstra syndrome, (3), Autosomal EIF2AK3 Wolcott-Rallison syndrome, (3), EIF4A3 Robin sequence with cleft mandible and limb anomalies, (3), EIF4G1 {Parkinson disease 18}, (3), Autosomal ELAC2 Combined oxidative phosphorylation deficiency 17, (3), ; {Prostate cancer, hereditary, 2, susceptibility to}, (3) Ichthyosis, spastic quadriplegia, and mental retardation, (3), ; ELOVL4?Spinocerebellar ataxia 34, (3), Autosomal ; Stargardt disease 3, (3), Autosomal ELP2 Mental retardation, autosomal 58, (3), EMC1 Cerebellar atrophy, visual impairment, and psychomotor retardation, (3), EMX2 Schizencephaly, (3) ENTPD1 Spastic paraplegia 64, autosomal, (3), EP300 Colorectal cancer, somatic, (3); Rubinstein-Taybi syndrome 2, (3), Autosomal EPB41L1?Mental retardation, autosomal 11, (3) EPG5 Vici syndrome, (3), EPM2A Epilepsy, progressive myoclonic 2A (Lafora), (3), ERCC2 ERCC3 ERCC5 Cerebrooculofacioskeletal syndrome 2, (3); Trichothiodystrophy 1, photosensitive, (3), ; Xeroderma pigmentosum, group D, (3), Trichothiodystrophy 2, photosensitive, (3), ; Xeroderma pigmentosum, group B, (3), Cerebrooculofacioskeletal syndrome 3, (3), ; Xeroderma pigmentosum, group G, (3), ; Xeroderma pigmentosum, group G/Cockayne syndrome, (3),

10 ERCC6 ERCC8 ERLIN2 ESCO2 ETFB ETHE1 EXOSC2 EXOSC3 EZH2 FA2H FAM126A FANCD2 FAR1 FARS2 FAT4 FBXL4 FBXO31 FGD1 FGF12 FGF14 FGFR1 FGFR2 FGFR3 Cerebrooculofacioskeletal syndrome 1, (3), ; Cockayne syndrome, type B, (3), ; De Sanctis-Cacchione syndrome, (3), ; {Lung cancer, susceptibility to}, (3), ; {Macular degeneration, age-related, susceptibility to, 5}, (3); Premature ovarian failure 11, (3), Autosomal ; UVsensitive syndrome 1, (3), Cockayne syndrome, type A, (3), ; UV-sensitive syndrome 2, (3), Spastic paraplegia 18, autosomal, (3), Roberts syndrome, (3), ; SC phocomelia syndrome, (3), Autosomal Glutaric acidemia IIB, (3), Ethylmalonic encephalopathy, (3), Pontocerebellar hypoplasia, type 1B, (3), Weaver syndrome, (3), Autosomal Spastic paraplegia 35, autosomal, (3), Leukodystrophy, hypomyelinating, 5, (3), Fanconi anemia, complementation group D2, (3), Peroxisomal fatty acyl-coa reductase 1 disorder, (3), Combined oxidative phosphorylation deficiency 14, (3), ;?Spastic paraplegia 77, autosomal, (3), Hennekam lymphangiectasia-lymphedema syndrome 2, (3), ; Van Maldergem syndrome 2, (3), Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), (3),?Mental retardation, autosomal 45, (3), Aarskog-Scott syndrome, (3), X-linked ; Mental retardation, X-linked syndromic 16, (3), X-linked Epileptic encephalopathy, early infantile, 47, (3), Autosomal Spinocerebellar ataxia 27, (3), Autosomal Encephalocraniocutaneous lipomatosis, (3), Somatic mosaicism; Hartsfield syndrome, (3), Autosomal ; Hypogonadotropic hypogonadism 2 with or without anosmia, (3), Autosomal ; Jackson-Weiss syndrome, (3), Autosomal ; Osteoglophonic dysplasia, (3), Autosomal ; Pfeiffer syndrome, (3), Autosomal ; Trigonocephaly 1, (3), Autosomal Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, (3), Autosomal ; Apert syndrome, (3), Autosomal ; Beare-Stevenson cutis gyrata syndrome, (3), Autosomal ; Bent bone dysplasia syndrome, (3), Autosomal ; Craniofacial-skeletal-dermatologic dysplasia, (3), Autosomal ; Craniosynostosis, nonspecific (3); Crouzon syndrome, (3), Autosomal ; Gastric cancer, somatic, (3); Jackson-Weiss syndrome, (3), Autosomal ; LADD syndrome, (3), Autosomal ; Pfeiffer syndrome, (3), Autosomal ; Saethre-Chotzen syndrome, (3), Autosomal ; Scaphocephaly and Axenfeld-Rieger anomaly (3); Scaphocephaly, maxillary retrusion, and mental retardation, (3) Achondroplasia, (3), Autosomal ; Bladder cancer, somatic, (3); CATSHL syndrome, (3),, Autosomal ; Cervical cancer, somatic, (3); Colorectal cancer, somatic, (3); Crouzon syndrome with acanthosis nigricans, (3), Autosomal ; Hypochondroplasia, (3), Autosomal ; LADD syndrome, (3), Autosomal ; Muenke syndrome, (3), Autosomal ; Nevus, epidermal, somatic, (3); SADDAN, (3), Autosomal ; Spermatocytic seminoma, somatic, (3); Thanatophoric dysplasia, type I, (3), Autosomal ; Thanatophoric dysplasia, type II, (3), Autosomal

11 FH FIBP FIGN FKRP FKTN FLNA FLVCR1 FMN2 FMR1 FOLR1 FOXG1 FOXP1 FOXP2 FOXRED1 FRAS1 FREM2 FRMD4A FRMPD4 FRRS1L FTCD FTO FTSJ1 FUCA1 FXYD2 GABRA1 GABRB1 GABRB3 GABRG2 GAD1 GALE Fumarase deficiency, (3), ; Leiomyomatosis and renal cell cancer, (3), Autosomal Thauvin-Robinet-Faivre syndrome, (3), Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, (3), ; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, (3), ; Muscular dystrophy-dystroglycanopathy (limbgirdle), type C, 5, (3), Cardiomyopathy, dilated, 1X, (3), ; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, (3), ; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, (3), Autosomal ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, (3), Autosomal Cardiac valvular dysplasia, X-linked, (3), X-linked ; Congenital short bowel syndrome, (3), X-linked ; FG syndrome 2, (3); Frontometaphyseal dysplasia 1, (3), X- linked ; Heterotopia, periventricular, (3), X-linked ; Intestinal pseudoobstruction, neuronal, (3), X-linked ; Melnick-Needles syndrome, (3), X- linked ; Otopalatodigital syndrome, type I, (3), X-linked ; Otopalatodigital syndrome, type II, (3), X-linked ; Terminal osseous dysplasia, (3) Ataxia, posterior column, with retinitis pigmentosa, (3), Mental retardation, autosomal 47, (3), Fragile X syndrome, (3), X-linked ; Fragile X tremor/ataxia syndrome, (3), X- linked ; Premature ovarian failure 1, (3), X-linked Neurodegeneration due to cerebral folate transport deficiency, (3), Rett syndrome, congenital variant, (3), Autosomal Mental retardation with language impairment and with or without autistic features, (3), Autosomal Speech-language disorder-1, (3), Autosomal Leigh syndrome due to mitochondrial complex I deficiency, (3),, Mitochondrial; Mitochondrial complex I deficiency, (3),, X-linked, Mitochondrial Fraser syndrome, (3), Fraser syndrome, (3),?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, (3), Autosomal Mental retardation, X-linked 104, (3), X-linked Epileptic encephalopathy, early infantile, 37, (3), Glutamate formiminotransferase deficiency, (3), Growth retardation, developmental delay, facial dysmorphism, (3), ; {Obesity, susceptibility to, BMIQ14}, (3), Mental retardation, X-linked 9/44, (3), X-linked Fucosidosis, (3), Hypomagnesemia 2, renal, (3), Autosomal {Epilepsy, childhood absence, susceptibility to, 4}, (3); {Epilepsy, juvenile myoclonic, susceptibility to, 5}, (3); Epileptic encephalopathy, early infantile, 19, (3), Autosomal Epileptic encephalopathy, early infantile, 45, (3), Autosomal {Epilepsy, childhood absence, susceptibility to, 5}, (3); Epileptic encephalopathy, early infantile, 43, (3), Autosomal {Epilepsy, childhood absence, susceptibility to, 2}, (3), Autosomal ; Epilepsy, generalized, with febrile seizures plus, type 3, (3), Autosomal ; Febrile seizures, familial, 8, (3), Autosomal?Cerebral palsy, spastic quadriplegic, 1, (3), Galactose epimerase deficiency, (3),

12 GALT GAMT GATAD2B GATM GCDH GCH1 GCK Galactosemia, (3), Cerebral creatine deficiency syndrome 2, (3), Mental retardation, autosomal 18, (3), Autosomal Cerebral creatine deficiency syndrome 3, (3), Glutaricaciduria, type I, (3), Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, (3),, Autosomal ; Hyperphenylalaninemia, BH4-deficient, B, (3), Diabetes mellitus, noninsulin-dependent, late onset, (3), Autosomal ; Diabetes mellitus, permanent neonatal, (3), Autosomal ; Hyperinsulinemic hypoglycemia, familial, 3, (3), Autosomal ; MODY, type II, (3), Autosomal GCSH Glycine encephalopathy, (3), GDI1 Mental retardation, X-linked 41, (3), X-linked GFAP Alexander disease, (3), Autosomal GFM2 Atrioventricular septal defect 3, (3), Autosomal ; Craniometaphyseal dysplasia, autosomal, (3), ; Erythrokeratodermia variabilis et progressiva, (3),, Autosomal ; Hypoplastic left heart syndrome 1, (3), GJA1 ; Oculodentodigital dysplasia, (3), Autosomal ; Oculodentodigital dysplasia, autosomal, (3), ; Palmoplantar keratoderma with congenital alopecia, (3), Autosomal ; Syndactyly, type III, (3), Autosomal Leukodystrophy, hypomyelinating, 2, (3), ; Lymphedema, hereditary, IC, GJC (3), Autosomal ; Spastic paraplegia 44, autosomal, (3), Autosomal GK Glycerol kinase deficiency, (3), X-linked GM1-gangliosidosis, type I, (3), ; GM1-gangliosidosis, type II, (3), GLB1 ; GM1-gangliosidosis, type III, (3), ; Mucopolysaccharidosis type IVB (Morquio), (3), GLDC Glycine encephalopathy, (3), Culler-Jones syndrome, (3), Autosomal ; Holoprosencephaly 9, (3), Autosomal GLI2 Greig cephalopolysyndactyly syndrome, (3), Autosomal ; {Hypothalamic hamartomas, somatic}, (3); Pallister-Hall syndrome, (3), Autosomal ; Polydactyly, postaxial, GLI3 types A1 and B, (3), Autosomal ; Polydactyly, preaxial, type IV, (3), Autosomal Hyperekplexia, hereditary 1, autosomal or, (3),, GLRA1 Autosomal GLRB Hyperekplexia 2, autosomal, (3) GLUD1 Hyperinsulinism-hyperammonemia syndrome, (3), Autosomal GLYCTK D-glyceric aciduria, (3), GM2A GM2-gangliosidosis, AB variant, (3), GMPPA Alacrima, achalasia, and mental retardation syndrome, (3), Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, (3), ; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), GMPPB type B, 14, (3), ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, (3), GNAO1 Epileptic encephalopathy, early infantile, 17, (3), Autosomal GNAS ACTH-independent macronodular adrenal hyperplasia, (3), Isolated cases; Acromegaly, somatic, (3); McCune-Albright syndrome, somatic, mosaic, (3); Osseous heteroplasia, progressive, (3), Autosomal ; Pseudohypoparathyroidism Ia, (3), Autosomal ; Pseudohypoparathyroidism Ib, (3), Autosomal ; Pseudohypoparathyroidism Ic, (3), Autosomal ; Pseudopseudohypoparathyroidism, (3), Autosomal

13 GNB1 Leukemia, acute lymphoblastic, somatic, (3); Mental retardation, autosomal 42, (3), Autosomal Intellectual developmental disorder with cardiac arrhythmia, (3), ; Language GNB5 delay and ADHD/cognitive impairment with or without cardiac arrhythmia, (3), Autosomal GNPAT Rhizomelic chondrodysplasia punctata, type 2, (3), GNPTAB Mucolipidosis II alpha/beta, (3), ; Mucolipidosis III alpha/beta, (3), GNS Mucopolysaccharidosis type IIID, (3), GOSR2 Epilepsy, progressive myoclonic 6, (3), GPC3 Simpson-Golabi-Behmel syndrome, type 1, (3), X-linked ; Wilms tumor, somatic, (3) GPHN Molybdenum cofactor deficiency C, (3) GPT2 Mental retardation, autosomal 49, (3), GRIA3 Mental retardation, X-linked 94, (3), X-linked GRID2 Spinocerebellar ataxia, autosomal 18, (3), GRIK2 Mental retardation, autosomal, 6, (3), GRIN1 Mental retardation, autosomal 8, (3) GRIN2A Epilepsy, focal, with speech disorder and with or without mental retardation, (3), Autosomal GRIN2B Epileptic encephalopathy, early infantile, 27, (3), Autosomal ; Mental retardation, autosomal 6, (3) GRIN3B GRIP1 Fraser syndrome, (3), GRM1 Spinocerebellar ataxia, autosomal 13, (3), Aphasia, primary progressive, (3), Autosomal ; Ceroid lipofuscinosis, neuronal, 11, GRN (3), ; Frontotemporal lobar degeneration with ubiquitin-positive inclusions, (3), Autosomal GSE1 GSS Glutathione synthetase deficiency, (3), ; Hemolytic anemia due to glutathione synthetase deficiency, (3), GTF2H5 Trichothiodystrophy 3, photosensitive, (3) GTPBP3 Combined oxidative phosphorylation deficiency 23, (3), GUSB Mucopolysaccharidosis VII, (3), HACE1 Spastic paraplegia and psychomotor retardation with or without seizures, (3), Autosomal HADH 3-hydroxyacyl-CoA dehydrogenase deficiency, (3), ; Hyperinsulinemic hypoglycemia, familial, 4, (3), HAX1 Neutropenia, severe congenital 3, autosomal, (3), HCCS Linear skin defects with multiple congenital anomalies 1, (3), X-linked HCFC1 Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblx type ), (3), X- linked HCN1 Epileptic encephalopathy, early infantile, 24, (3), Autosomal HDAC4 HDAC6?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, (3), X-linked HDAC8 Cornelia de Lange syndrome 5, (3), X-linked HECTD1 HECW2 Neurodevelopmental disorder with hypotonia, seizures, and absent language, (3), Autosomal Megalencephalic leukoencephalopathy with subcortical cysts 2A, (3), ; HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, (3), Autosomal HERC1 Macrocephaly, dysmorphic facies, and psychomotor retardation, (3),

14 HERC2 HESX1 HEXA HEXB HIVEP2 HLCS HMGCL HNMT HNRNPH2 HNRNPK HNRNPU Mental retardation, autosomal 38, (3), ; [Skin/hair/eye pigmentation 1, blond/brown hair], (3), ; [Skin/hair/eye pigmentation 1, blue/nonblue eyes], (3), Growth hormone deficiency with pituitary anomalies, (3),, Autosomal ; Pituitary hormone deficiency, combined, 5, (3),, Autosomal ; Septooptic dysplasia, (3),, Autosomal GM2-gangliosidosis, several forms, (3), ; [Hex A pseudodeficiency], (3), ; Tay-Sachs disease, (3), Sandhoff disease, infantile, juvenile, and adult forms, (3), Mental retardation, autosomal 43, (3), Autosomal Holocarboxylase synthetase deficiency, (3), HMG-CoA lyase deficiency, (3), {Asthma, susceptibility to}, (3), Autosomal ; Mental retardation, autosomal 51, (3), Mental retardation, X-linked, syndromic, Bain type, (3), X-linked Au-Kline syndrome, (3), Autosomal Epileptic encephalopathy, early infantile, 54, (3), Autosomal HOXA1 Athabaskan brainstem dysgenesis syndrome, (3); Bosley-Salih-Alorainy syndrome, (3) HPD HPRT1 Hawkinsinuria, (3), Autosomal ; Tyrosinemia, type III, (3), HPRT-related gout, (3), X-linked ; Lesch-Nyhan syndrome, (3), X-linked {Bladder cancer, somatic}, (3); Congenital myopathy with excess of muscle spindles, (3), Autosomal, Isolated cases; Costello syndrome, (3), Autosomal, Isolated HRAS cases; {Nevus sebaceous or woolly hair nevus, somatic}, (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, (3); {Spitz nevus or nevus spilus, somatic}, (3); {Thyroid carcinoma, follicular, somatic}, (3) HSD17B10 HDS10 mitochondrial disease, (3), X-linked HSD17B4 D-bifunctional protein deficiency, (3), ; Perrault syndrome 1, (3), HSPA9 Anemia, sideroblastic, 4, (3), Autosomal ; Even-plus syndrome, (3), Autosomal HSPD1 Leukodystrophy, hypomyelinating, 4, (3), ; Spastic paraplegia 13, autosomal, (3), Autosomal HUWE1 Mental retardation, X-linked syndromic, Turner type, (3) IARS Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, (3), IDH2 D-2-hydroxyglutaric aciduria 2, (3) IDS Mucopolysaccharidosis II, (3), X-linked IDUA Mucopolysaccharidosis Ih, (3), ; Mucopolysaccharidosis Ih/s, (3), ; Mucopolysaccharidosis Is, (3), IER3IP1 Microcephaly, epilepsy, and diabetes syndrome, (3), IFIH1 Aicardi-Goutieres syndrome 7, (3), Autosomal ; Singleton-Merten syndrome 1, (3), Autosomal IFT172 Retinitis pigmentosa 71, (3), ; Short-rib thoracic dysplasia 10 with or without polydactyly, (3), IFT81 IGBP1 Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, (3), X- linked IGF1 Growth retardation with deafness and mental retardation due to IGF1 deficiency, (3), Autosomal

15 IKBKG Ectodermal dysplasia, hypohidrotic, with immune deficiency, (3); Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, (3); Immunodeficiency 33, (3), X-linked ; Immunodeficiency, isolated, (3); Incontinentia pigmenti, (3), X-linked ; Invasive pneumococcal disease, recurrent isolated, 2, (3) IL1RAPL1 Mental retardation, X-linked 21/34, (3), X-linked IMPA1 Mental retardation, autosomal 59, (3), INPP5E Joubert syndrome 1, (3), ; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, (3), INPP5K Muscular dystrophy, congenital, with cataracts and intellectual disability, (3), Autosomal IQSEC2 Mental retardation, X-linked 1/78, (3), X-linked Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, (3), ISPD ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, (3), ITGA7 Muscular dystrophy, congenital, due to ITGA7 deficiency, (3), ITPR1 Gillespie syndrome, (3); Spinocerebellar ataxia 15, (3), Autosomal ; Spinocerebellar ataxia 29, congenital nonprogressive, (3), Autosomal IVD Isovaleric acidemia, (3), JAG1 Alagille syndrome 1, (3), Autosomal ;?Deafness, congenital heart defects, and posterior embryotoxon (3); Tetralogy of Fallot, (3), Autosomal JAM3 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, (3), Autosomal JMJD1C KALRN {Coronary heart disease, susceptibility to, 5}, (3) KANK1 Cerebral palsy, spastic quadriplegic, 2, (3) KANSL1 Koolen-De Vries syndrome, (3), Autosomal KAT6A Mental retardation, autosomal 32, (3), Autosomal KAT6B Genitopatellar syndrome, (3), Autosomal ; SBBYSS syndrome, (3) KATNB1 Lissencephaly 6, with microcephaly, (3), KCNA1 Episodic ataxia/myokymia syndrome, (3), Autosomal KCNA2 Epileptic encephalopathy, early infantile, 32, (3), Autosomal KCNA4 KCNB1 Epileptic encephalopathy, early infantile, 26, (3), Autosomal KCNC1 Epilepsy, progressive myoclonic 7, (3), Autosomal KCNC3 Spinocerebellar ataxia 13, (3), Autosomal KCNH1 Temple-Baraitser syndrome, (3), Autosomal ; Zimmermann-Laband syndrome 1, (3), Autosomal KCNJ10 Enlarged vestibular aqueduct, digenic, (3), ; SESAME syndrome, (3), Diabetes mellitus, transient neonatal, 3, (3), Autosomal ; {Diabetes mellitus, type 2, susceptibility to}, (3), Autosomal ; Diabetes, permanent neonatal, with or without KCNJ11 neurologic features, (3), Autosomal ; Hyperinsulinemic hypoglycemia, familial, 2, (3), ; Maturity-onset diabetes of the young, type 13, (3), Autosomal KCNJ6 Keppen-Lubinsky syndrome, (3), Autosomal KCNK9 Birk-Barel mental retardation dysmorphism syndrome, (3) KCNMA1 Generalized epilepsy and paroxysmal dyskinesia, (3), Autosomal KCNQ2 KCNQ3 KCNQ5 KCNT1 Epileptic encephalopathy, early infantile, 7, (3), Autosomal ; Myokymia, (3), Autosomal ; Seizures, benign neonatal, 1, (3), Autosomal Seizures, benign neonatal, type 2, (3), Autosomal Epilepsy, nocturnal frontal lobe, 5, (3), Autosomal ; Epileptic encephalopathy, early infantile, 14, (3), Autosomal

16 KCTD7 KDM1A KDM5C KDM6A KIAA0586 KIAA1109 KIDINS220 KIF11 KIF1A KIF1BP KIF2A KIF4A KIF5C Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, (3), Autosomal Cleft palate, psychomotor retardation, and distinctive facial features, (3), Autosomal Mental retardation, X-linked, syndromic, Claes-Jensen type, (3), X-linked Kabuki syndrome 2, (3), X-linked Joubert syndrome 23, (3), ; Short-rib thoracic dysplasia 14 with polydactyly, (3), Spastic paraplegia, intellectual disability, nystagmus, and obesity, (3), Autosomal Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, (3), Autosomal Mental retardation, autosomal 9, (3), Autosomal ; Neuropathy, hereditary sensory, type IIC, (3), ; Spastic paraplegia 30, autosomal, (3), Goldberg-Shprintzen megacolon syndrome, (3), Cortical dysplasia, complex, with other brain malformations 3, (3), Autosomal?Mental retardation, X-linked 100, (3), X-linked Cortical dysplasia, complex, with other brain malformations 2, (3), Autosomal Acrocallosal syndrome, (3), ;?Al-Gazali-Bakalinova syndrome, (3), KIF7 ;?Hydrolethalus syndrome 2, (3), ; Joubert syndrome 12, (3), KIRREL3 Mental retardation, autosomal 4, (3) KLHL15 Mental retardation, X-linked 103, (3), X-linked KMT2A Leukemia, myeloid/lymphoid or mixed-lineage, (2), Autosomal ; Wiedemann-Steiner syndrome, (3), Autosomal KMT2B Dystonia 28, childhood-onset, (3), Autosomal KMT2C KMT2D Kabuki syndrome 1, (3), Autosomal KNL1 Microcephaly 4, primary, autosomal, (3), KPTN Mental retardation, autosomal 41, (3), KRAS L1CAM L2HGDH LAMA1 LAMA2 LAMC3 LAMP2 LARGE1 LARP7 Bladder cancer, somatic, (3); Breast cancer, somatic, (3); Cardiofaciocutaneous syndrome 2, (3); Gastric cancer, somatic, (3); Leukemia, acute myeloid, (3), Autosomal ; Lung cancer, somatic, (3); Noonan syndrome 3, (3); Pancreatic carcinoma, somatic, (3); RAS-associated autoimmune leukoproliferative disorder, (3), Autosomal ; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, (3) CRASH syndrome, (3), X-linked ; Corpus callosum, partial agenesis of, (3), X- linked ; Hydrocephalus due to aqueductal stenosis, (3), X-linked ; Hydrocephalus with Hirschsprung disease, (3), X-linked ; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, (3), X-linked ; MASA syndrome, (3), X- linked L-2-hydroxyglutaric aciduria, (3), Poretti-Boltshauser syndrome, (3), Muscular dystrophy, congenital merosin-deficient, (3), ; Muscular dystrophy, congenital, due to partial LAMA2 deficiency, (3), Cortical malformations, occipital, (3), Danon disease, (3), X-linked Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, (3), ; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, (3), Alazami syndrome, (3),

17 LAS1L LGI1 LIAS LIG4 LINS1 LMAN2L LONP1 LRP2 LRPPRC LZTFL1 MAF MAGEL2 MAGT1 MAN1B1 MAN2B1 MANBA MAOA Wilson-Turner syndrome, (3), X-linked Epilepsy, familial temporal lobe, 1, (3), Autosomal Hyperglycinemia, lactic acidosis, and seizures, (3), LIG4 syndrome, (3); {Multiple myeloma, resistance to}, (3), Somatic mutation Mental retardation, autosomal 27, (3),?Mental retardation, autosomal, 52, (3), CODAS syndrome, (3), Donnai-Barrow syndrome, (3), Leigh syndrome, French-Canadian type, (3), Bardet-Biedl syndrome 17, (3), Ayme-Gripp syndrome, (3), Autosomal ; Cataract 21, multiple types, (3), Autosomal Schaaf-Yang syndrome, (3), Autosomal Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, (3) Mental retardation, autosomal 15, (3), Mannosidosis, alpha-, types I and II, (3), Mannosidosis, beta, (3), {Antisocial behavior}, (3), X-linked ; Brunner syndrome, (3), X-linked MAP2K1 Cardiofaciocutaneous syndrome 3, (3) MAP2K2 Cardiofaciocutaneous syndrome 4, (3) MAPRE2 Symmetric circumferential skin creases, congenital, 2, (3), Autosomal MASP1 3MC syndrome 1, (3), MAT1A MBD5 MBOAT7 MBTPS2 MCCC1 MCCC2 MCOLN1 MCPH1 MDH2 MECP2 MECR MED12 MED13L MED17 MED23 MED25 Hypermethioninemia, persistent, autosomal, due to methionine adenosyltransferase I/III deficiency, (3),, Autosomal ; Methionine adenosyltransferase deficiency, autosomal, (3),, Autosomal Mental retardation, autosomal 1, (3), Autosomal Mental retardation, autosomal 57, (3), IFAP syndrome with or without BRESHECK syndrome, (3), X-linked ; Keratosis follicularis spinulosa decalvans, X-linked, (3), X-linked ;?Olmsted syndrome, X-linked, (3), X- linked 3-Methylcrotonyl-CoA carboxylase 1 deficiency, (3), 3-Methylcrotonyl-CoA carboxylase 2 deficiency, (3), Mucolipidosis IV, (3), Microcephaly 1, primary, autosomal, (3), Epileptic encephalopathy, early infantile, 51, (3), {Autism susceptibility, X-linked 3}, (3), Isolated cases, X-linked, Multifactorial; Encephalopathy, neonatal severe, (3), X-linked ; Mental retardation, X-linked syndromic, Lubs type, (3), X-linked ; Mental retardation, X-linked, syndromic 13, (3), X-linked ; Rett syndrome, (3), X-linked ; Rett syndrome, atypical, (3), X-linked ; Rett syndrome, preserved speech variant, (3), X-linked Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, (3), Autosomal Lujan-Fryns syndrome, (3), X-linked ; Ohdo syndrome, X-linked, (3), X-linked ; Opitz-Kaveggia syndrome, (3), X-linked Mental retardation and distinctive facial features with or without cardiac defects, (3), Autosomal ; Transposition of the great arteries, dextro-looped 1, (3), Autosomal Microcephaly, postnatal progressive, with seizures and brain atrophy, (3), Mental retardation, autosomal 18, (3), Basel-Vanagait-Smirin-Yosef syndrome, (3), ;?Charcot-Marie-Tooth disease, type 2B2, (3),