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Genpanel, versjon v02

Tabellen er sortert på gennavn (HGNC gensymbol) Navn på gen er iht. HGNC >x10 Andel av genet som har blitt lest med tilfredstillende kvalitet flere enn 10 ganger under sekvensering x10 er forventet dekning; faktisk dekning vil variere.

Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) AAAS 13666 NM_015665.5 100% Achalasia-addisonianism-alacrimia syndrome OMIM

AASS 17366 NM_005763.3 100% Saccharopinuria OMIM Hyperlysinemia OMIM

ABCB7 48 NM_004299.4 100% Anemia, sideroblastic, with ataxia OMIM

ABCC9 60 NM_005691.3 99% Hypertrichotic osteochondrodysplasia OMIM

ABCD1 61 NM_000033.3 97% Adrenoleukodystrophy OMIM

ABCD4 68 NM_005050.3 100% Methylmalonic aciduria and homocystinuria, cblJ type OMIM

ABHD5 21396 NM_016006.4 96% Chanarin-Dorfman syndrome OMIM

ACAD9 21497 NM_014049.4 100% Mitochondrial complex I deficiency due to ACAD9 deficiency OMIM

ACADM 89 NM_000016.5 100% Acyl-CoA dehydrogenase, medium chain, deficiency of OMIM

ACADS 90 NM_000017.3 100% Acyl-CoA dehydrogenase, short-chain, deficiency of OMIM

ACADVL 92 NM_000018.3 100% VLCAD deficiency OMIM

ACAT1 93 NM_000019.3 99% Alpha-methylacetoacetic aciduria OMIM

ACO2 118 NM_001098.2 100% Infantile cerebellar-retinal degeneration OMIM

ACOX1 119 NM_004035.6 100% Peroxisomal acyl-CoA oxidase deficiency OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ACSL4 3571 NM_004458.2 99% Mental retardation, X-linked 63 OMIM

ACTA2 130 NM_001613.2 100% Multisystemic smooth muscle dysfunction syndrome OMIM

ACTB 132 NM_001101.3 100% Baraitser-Winter syndrome 1 OMIM ?Dystonia, juvenile-onset OMIM

ACTG1 144 NM_001614.3 100% Baraitser-Winter syndrome 2 OMIM

ACVR1 171 NM_001105.4 99% Fibrodysplasia ossificans progressiva OMIM

ACVR2B 174 NM_001106.3 96% Heterotaxy, visceral, 4, autosomal OMIM

ACY1 177 NM_000666.2 100% Aminoacylase 1 deficiency OMIM

ADAR 225 NM_001111.4 99% Aicardi-Goutieres syndrome 6 OMIM

ADCK3 16812 NM_020247.4 100% Coenzyme Q10 deficiency, primary, 4 OMIM

ADK 257 NM_001123.3 100% Hypermethioninemia due to adenosine kinase deficiency OMIM

ADNP 15766 NM_015339.3 100% Helsmoortel-van der Aa syndrome OMIM

ADRA2B 282 NM_000682.6 100% Epilepsy, myoclonic, familial adult, 2 OMIM

ADSL 291 NM_000026.2 100% Adenylosuccinase deficiency OMIM

AFF2 3776 NM_002025.3 99% Mental retardation, X-linked, FRAXE type OMIM

AFG3L2 315 NM_006796.2 98% Ataxia, spastic, 5, autosomal recessive OMIM

AGA 318 NM_000027.3 100% Aspartylglucosaminuria OMIM

AGK 21869 NM_018238.3 100% Sengers syndrome OMIM Cataract 38, autosomal recessive OMIM

AGL 321 NM_000642.2 99% Glycogen storage disease IIIb OMIM Glycogen storage disease IIIa OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) AGXT 341 NM_000030.2 100% Hyperoxaluria, primary, type 1 OMIM

AIFM1 8768 NM_004208.3 100% Cowchock syndrome OMIM Combined oxidative phosphorylation deficiency 6 OMIM

AIMP1 10648 NM_004757.3 100% Leukodystrophy, hypomyelinating, 3 OMIM

AKT1 391 NM_005163.2 100% Cowden syndrome 6 OMIM

AKT3 393 NM_005465.4 100% Megalencephaly-polymicrogyria-polydactyly- hydrocephalus syndrome 2 OMIM

ALDH18A1 9722 NM_002860.3 100% Cutis laxa, autosomal recessive, type IIIA OMIM Cutis laxa, autosomal dominant 3 OMIM Spastic paraplegia 9B, autosomal recessive OMIM Spastic paraplegia 9A, autosomal dominant OMIM ALDH3A2 403 NM_000382.2 99% Sjogren-Larsson syndrome OMIM

ALDH4A1 406 NM_003748.3 99% Hyperprolinemia, type II OMIM

ALDH5A1 408 NM_001080.3 99% Succinic semialdehyde dehydrogenase deficiency OMIM

ALDH7A1 877 NM_001182.4 100% Epilepsy, pyridoxine-dependent OMIM

ALDOA 414 NM_000034.3 100% Glycogen storage disease XII OMIM

ALDOB 417 NM_000035.3 100% Fructose intolerance OMIM

ALG1 18294 NM_019109.4 99% Congenital disorder of glycosylation, type Ik OMIM

ALG11 32456 NM_001004127.2 100% Congenital disorder of glycosylation, type Ip OMIM

ALG12 19358 NM_024105.3 100% Congenital disorder of glycosylation, type Ig OMIM

ALG13 30881 NM_001099922.2 99% Congenital disorder of glycosylation, type Is OMIM

ALG2 23159 NM_033087.3 100% Myasthenic syndrome, congenital, 14, with tubular aggregates OMIM ?Congenital disorder of glycosylation, type Ii OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ALG3 23056 NM_005787.5 100% Congenital disorder of glycosylation, type Id OMIM

ALG6 23157 NM_013339.3 100% Congenital disorder of glycosylation, type Ic OMIM

ALG8 23161 NM_024079.4 100% Congenital disorder of glycosylation, type Ih OMIM

ALG9 15672 NM_001077691.1 99% Congenital disorder of glycosylation, type Il OMIM

ALMS1 428 NM_015120.4 99% Alstrom syndrome OMIM

ALPL 438 NM_000478.4 100% Hypophosphatasia, infantile OMIM Hypophosphatasia, childhood OMIM

ALX1 1494 NM_006982.2 100% ?Frontonasal dysplasia 3 OMIM

ALX3 449 NM_006492.2 79% Frontonasal dysplasia 1 OMIM

ALX4 450 NM_021926.3 99% Parietal foramina 2 OMIM Frontonasal dysplasia 2 OMIM

AMER1 26837 NM_152424.3 100% Osteopathia striata with cranial sclerosis OMIM

AMT 473 NM_000481.3 100% Glycine encephalopathy OMIM

ANKRD11 21316 NM_013275.5 100% KBG syndrome OMIM

AP1S2 560 NM_003916.4 100% Mental retardation, X-linked syndromic 5 OMIM

AP4B1 572 NM_006594.3 99% Spastic paraplegia 47, autosomal recessive OMIM

AP4E1 573 NM_007347.4 99% Spastic paraplegia 51, autosomal recessive OMIM

AP4M1 574 NM_004722.3 100% Spastic paraplegia 50, autosomal recessive OMIM

AP4S1 575 NM_007077.4 100% Spastic paraplegia 52, autosomal recessive OMIM

APTX 15984 NM_175073.2 100% Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ARFGEF2 15853 NM_006420.2 99% Periventricular heterotopia with microcephaly OMIM

ARG1 663 NM_000045.3 100% Argininemia OMIM

ARHGAP31 29216 NM_020754.3 100% Adams-Oliver syndrome 1 OMIM

ARHGEF6 685 NM_004840.2 100% Mental retardation, X-linked 46 OMIM

ARHGEF9 14561 NM_015185.2 89% Epileptic encephalopathy, early infantile, 8 OMIM

ARID1A 11110 NM_006015.4 95% Mental retardation, autosomal dominant 14 OMIM

ARID1B 18040 NM_020732.3 93% Mental retardation, autosomal dominant 12 OMIM

ARL6 13210 NM_177976.2 100% Bardet-Biedl syndrome 3 OMIM

ARSA 713 NM_000487.5 100% Metachromatic leukodystrophy OMIM

ARSE 719 NM_000047.2 100% Chondrodysplasia punctata, X-linked recessive OMIM

ARX 18060 NM_139058.2 70% Hydranencephaly with abnormal genitalia OMIM Epileptic encephalopathy, early infantile, 1 OMIM Proud syndrome OMIM Partington syndrome OMIM Mental retardation, X-linked 29 and others OMIM Lissencephaly, X-linked 2 OMIM ASAH1 735 NM_177924.3 100% Spinal muscular atrophy with progressive myoclonic epilepsy OMIM Farber lipogranulomatosis OMIM ASL 746 NM_000048.3 100% Argininosuccinic aciduria OMIM

ASPA 756 NM_000049.2 99% Canavan disease OMIM

ASPM 19048 NM_018136.4 100% Microcephaly 5, primary, autosomal recessive OMIM

ASS1 758 NM_000050.4 100% Citrullinemia OMIM

ASXL1 18318 NM_015338.5 99% Bohring-Opitz syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ATIC 794 NM_004044.6 99% AICA-ribosiduria due to ATIC deficiency OMIM

ATM 795 NM_000051.3 97% Ataxia-telangiectasia OMIM

ATP13A2 30213 NM_022089.3 99% ?Ceroid lipofuscinosis, neuronal, 12 OMIM Kufor-Rakeb syndrome OMIM

ATP1A3 801 NM_152296.4 100% CAPOS syndrome OMIM Alternating hemiplegia of childhood 2 OMIM

ATP6AP2 18305 NM_005765.2 99% ?Mental retardation, X-linked, syndromic, Hedera type OMIM

ATP7A 869 NM_000052.6 98% Occipital horn syndrome OMIM Menkes disease OMIM

ATR 882 NM_001184.3 99% Seckel syndrome 1 OMIM

ATRX 886 NM_000489.4 99% Mental retardation-hypotonic facies syndrome, X-linked OMIM Alpha-thalassemia/mental retardation syndrome OMIM AUH 890 NM_001698.2 100% 3-methylglutaconic aciduria, type I OMIM

AUTS2 14262 NM_015570.3 99% Mental retardation, autosomal dominant 26 OMIM

B4GALT7 930 NM_007255.2 99% Ehlers-Danlos syndrome, progeroid type, 1 OMIM

BBS1 966 NM_024649.4 100% Bardet-Biedl syndrome 1 OMIM

BBS10 26291 NM_024685.3 100% Bardet-Biedl syndrome 10 OMIM

BBS12 26648 NM_152618.2 98% Bardet-Biedl syndrome 12 OMIM

BBS2 967 NM_031885.3 100% Bardet-Biedl syndrome 2 OMIM

BBS4 969 NM_033028.4 100% Bardet-Biedl syndrome 4 OMIM

BBS5 970 NM_152384.2 100% Bardet-Biedl syndrome 5 OMIM

BBS7 18758 NM_176824.2 99% Bardet-Biedl syndrome 7 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) BBS9 30000 NM_198428.2 100% Bardet-Biedl syndrome 9 OMIM

BCAP31 16695 NM_001139441.1 100% Deafness, dystonia, and cerebral hypomyelination OMIM

BCKDHA 986 NM_000709.3 100% Maple syrup urine disease, type Ia OMIM

BCKDHB 987 NM_183050.2 100% Maple syrup urine disease, type Ib OMIM

BCOR 20893 NM_017745.5 99% Microphthalmia, syndromic 2 OMIM

BCS1L 1020 NM_004328.4 100% Bjornstad syndrome OMIM Mitochondrial complex III deficiency, nuclear type 1 OMIM Leigh syndrome OMIM BIN1 1052 NM_139343.2 99% Myopathy, centronuclear, autosomal recessive OMIM

BLM 1058 NM_000057.3 99% Bloom syndrome OMIM

BMP4 1071 NM_001202.3 100% Orofacial cleft 11 OMIM Microphthalmia, syndromic 6 OMIM

BMPER 24154 NM_133468.4 99% Diaphanospondylodysostosis OMIM

BOLA3 24415 NM_212552.2 100% Multiple mitochondrial dysfunctions syndrome 2 OMIM

BRAF 1097 NM_004333.4 97% Cardiofaciocutaneous syndrome OMIM Noonan syndrome 7 OMIM LEOPARD syndrome 3 OMIM BRAT1 21701 NM_152743.3 95% Rigidity and multifocal seizure syndrome, lethal neonatal OMIM

BRCA2 1101 NM_000059.3 100% Fanconi anemia, complementation group D1 OMIM

BRIP1 20473 NM_032043.2 99% Fanconi anemia, complementation group J OMIM

BRWD3 17342 NM_153252.4 99% Mental retardation, X-linked 93 OMIM

BSND 16512 NM_057176.2 100% Bartter syndrome, type 4a OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) BTD 1122 NM_000060.3 99% Biotinidase deficiency OMIM

BUB1B 1149 NM_001211.5 100% Mosaic variegated aneuploidy syndrome 1 OMIM

C12orf57 29521 NM_138425.3 99% Temtamy syndrome OMIM

C12orf65 26784 NM_152269.4 100% Spastic paraplegia 55, autosomal recessive OMIM Combined oxidative phosphorylation deficiency 7 OMIM

C5orf42 25801 NM_023073.3 88% Orofaciodigital syndrome VI OMIM Joubert syndrome 17 OMIM

CA2 1373 NM_000067.2 100% Osteopetrosis, autosomal recessive 3, with renal tubular acidosis OMIM

CA8 1382 NM_004056.4 100% Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 OMIM

CACNA1C 1390 NM_000719.6 99% Timothy syndrome OMIM

CACNA1D 1391 NM_000720.3 99% Primary aldosteronism, seizures, and neurologic abnormalities OMIM

CAMTA1 18806 NM_015215.3 99% Cerebellar ataxia, nonprogressive, with mental retardation OMIM

CAPN10 1477 NM_023083.3 99% {Diabetes mellitus, noninsulin-dependent 1}, intellectual disability OMIM PubMed

CASK 1497 NM_003688.3 99% Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM FG syndrome 4 OMIM Mental retardation, with or without nystagmus OMIM CASP2 1503 NM_032982.3 100%

CAV1 1527 NM_001753.4 99% ?Lipodystrophy, congenital generalized, type 3 OMIM ?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome OMIM CBL 1541 NM_005188.3 100% Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia OMIM

CBS 1550 NM_000071.2 100% Homocystinuria, B6-responsive and nonresponsive types OMIM

CC2D1A 30237 NM_017721.4 100% Mental retardation, autosomal recessive 3 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) CC2D2A 29253 NM_001080522.2 99% COACH syndrome OMIM Meckel syndrome 6 OMIM Joubert syndrome 9 OMIM CCBE1 29426 NM_133459.3 100% Hennekam lymphangiectasia-lymphedema syndrome 1 OMIM

CCDC22 28909 NM_014008.4 99% Ritscher-Schinzel syndrome 2 OMIM

CD96 16892 NM_198196.2 98% C syndrome OMIM

CDC6 1744 NM_001254.3 100% Meier-Gorlin syndrome 5 OMIM

CDH15 1754 NM_004933.2 100% Mental retardation, autosomal dominant 3 OMIM

CDK5RAP2 18672 NM_018249.5 100% Microcephaly 3, primary, autosomal recessive OMIM

CDKL5 11411 NM_003159.2 100% Epileptic encephalopathy, early infantile, 2 OMIM

CDKN1C 1786 NM_000076.2 75% IMAGE syndrome OMIM Beckwith-Wiedemann syndrome OMIM

CDON 17104 NM_016952.4 99% Holoprosencephaly 11 OMIM

CENPJ 17272 NM_018451.4 100% Microcephaly 6, primary, autosomal recessive OMIM ?Seckel syndrome 4 OMIM

CEP135 29086 NM_025009.4 100% ?Microcephaly 8, primary, autosomal recessive OMIM

CEP152 29298 NM_014985.3 99% Seckel syndrome 5 OMIM Microcephaly 9, primary, autosomal recessive OMIM

CEP290 29021 NM_025114.3 99% Meckel syndrome 4 OMIM Joubert syndrome 5 OMIM ?Bardet-Biedl syndrome 14 OMIM CEP41 12370 NM_018718.2 100% Joubert syndrome 15 OMIM

CEP57 30794 NM_014679.4 99% Mosaic variegated aneuploidy syndrome 2 OMIM

CEP63 25815 NM_025180.3 99% ?Seckel syndrome 6 OMIM

CHD2 1917 NM_001271.3 100% Epileptic encephalopathy, childhood-onset OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) CHD7 20626 NM_017780.3 100% CHARGE syndrome OMIM

CHST14 24464 NM_130468.3 97% Ehlers-Danlos syndrome, musculocontractural type 1 OMIM

CLN3 2074 NM_001042432.1 100% Ceroid lipofuscinosis, neuronal, 3 OMIM

CLN5 2076 NM_006493.2 100% Ceroid lipofuscinosis, neuronal, 5 OMIM

CLN6 2077 NM_017882.2 99% Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM Ceroid lipofuscinosis, neuronal, 6 OMIM CLN8 2079 NM_018941.3 99% Ceroid lipofuscinosis, neuronal, 8 OMIM Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM CNKSR2 19701 NM_001168647.1 88% CNKSR2-associated mental retardation

CNTNAP2 13830 NM_014141.5 99% Cortical dysplasia-focal epilepsy syndrome OMIM Pitt-Hopkins like syndrome 1 OMIM

COA5 33848 NM_001008215.2 100% ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 OMIM

COG1 6545 NM_018714.2 98% Congenital disorder of glycosylation, type IIg OMIM

COG4 18620 NM_015386.2 100% Congenital disorder of glycosylation, type IIj OMIM

COG5 14857 NM_006348.3 100% Congenital disorder of glycosylation, type IIi OMIM

COG7 18622 NM_153603.3 99% Congenital disorder of glycosylation, type IIe OMIM

COG8 18623 NM_032382.4 99% Congenital disorder of glycosylation, type IIh OMIM

COL18A1 2195 NM_130445.3 99% Knobloch syndrome, type 1 OMIM

COL4A1 2202 NM_001845.5 99% Porencephaly 1 OMIM Brain small vessel disease with or without ocular anomalies OMIM COL4A2 2203 NM_001846.2 100% Porencephaly 2 OMIM

COLEC11 17213 NM_024027.4 100% 3MC syndrome 2 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) COQ2 25223 NM_015697.7 100% Coenzyme Q10 deficiency, primary, 1 OMIM

COQ9 25302 NM_020312.3 98% Coenzyme Q10 deficiency, primary, 5 OMIM

COX10 2260 NM_001303.3 100% Mitochondrial complex IV deficiency OMIM Leigh syndrome due to mitochondrial COX4 deficiency OMIM COX15 2263 NM_004376.5 100% Leigh syndrome due to cytochrome c oxidase deficiency OMIM Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 OMIM CPS1 2323 NM_001875.4 99% Carbamoylphosphate synthetase I deficiency OMIM

CRADD 2340 NM_003805.3 100% Mental retardation, autosomal recessive 34 OMIM

CRBN 30185 NM_016302.3 99% Mental retardation, autosomal recessive 2 OMIM

CREBBP 2348 NM_004380.2 99% Rubinstein-Taybi syndrome OMIM

CSTB 2482 NM_000100.3 100% Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM

CTC1 26169 NM_025099.5 100% Cerebroretinal microangiopathy with calcifications and cysts OMIM

CTDP1 2498 NM_004715.4 90% Congenital cataracts, facial dysmorphism, and neuropathy OMIM

CTNNB1 2514 NM_001904.3 100% Mental retardation, autosomal dominant 19 OMIM

CTSA 9251 NM_000308.2 99% Galactosialidosis OMIM

CTSD 2529 NM_001909.4 97% Ceroid lipofuscinosis, neuronal, 10 OMIM

CUL4B 2555 NM_003588.3 99% Mental retardation, X-linked, syndromic 15 (Cabezas type) OMIM

CYB5R3 2873 NM_000398.6 97% Methemoglobinemia, type II OMIM Methemoglobinemia, type I OMIM

DAG1 2666 NM_004393.5 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) DARS2 25538 NM_018122.4 100% Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation OMIM

DBT 2698 NM_001918.3 99% Maple syrup urine disease, type II OMIM

DCAF17 25784 NM_025000.3 99% Woodhouse-Sakati syndrome OMIM

DCX 2714 NM_178153.2 99% Subcortical laminal heteropia, X-linked OMIM Lissencephaly, X-linked OMIM

DDC 2719 NM_000790.3 100% Aromatic L-amino acid decarboxylase deficiency OMIM

DDOST 2728 NM_005216.4 100% ?Congenital disorder of glycosylation, type Ir OMIM

DDX11 2736 NM_030653.3 100% Warsaw breakage syndrome OMIM

DEAF1 14677 NM_021008.3 97% Mental retardation, autosomal dominant 24 OMIM

DHCR24 2859 NM_014762.3 100% Desmosterolosis OMIM

DHCR7 2860 NM_001360.2 100% Smith-Lemli-Opitz syndrome OMIM

DHFR 2861 NM_000791.3 100% Megaloblastic anemia due to dihydrofolate reductase deficiency OMIM

DIP2B 29284 NM_173602.2 100% Mental retardation, FRA12A type OMIM

DIS3L2 28648 NM_152383.4 100% Perlman syndrome OMIM

DKC1 2890 NM_001363.4 99% Dyskeratosis congenita, X-linked OMIM

DLAT 2896 NM_001931.4 99% Pyruvate dehydrogenase E2 deficiency OMIM

DLD 2898 NM_000108.4 100% Dihydrolipoamide dehydrogenase deficiency OMIM

DLG3 2902 NM_021120.3 97% Mental retardation, X-linked 90 OMIM

DMD 2928 NM_004006.2 99% Duchenne muscular dystrophy OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) DMPK 2933 NM_004409.4 100% Myotonic dystrophy 1 OMIM

DNM1 2972 NM_004408.3 99% Epileptic encephalopathy, early infantile, 31 OMIM

DNMT3A 2978 NM_175629.2 100% Tatton-Brown-Rahman syndrome OMIM

DNMT3B 2979 NM_006892.3 100% Immunodeficiency-centromeric instability-facial anomalies syndrome 1 OMIM

DOCK6 19189 NM_020812.3 99% Adams-Oliver syndrome 2 OMIM

DOLK 23406 NM_014908.3 100% Congenital disorder of glycosylation type 1m OMIM

DPAGT1 2995 NM_001382.3 100% Myasthenic syndrome, congenital, 13, with tubular aggregates OMIM Congenital disorder of glycosylation, type Ij OMIM DPM1 3005 NM_003859.1 100% Congenital disorder of glycosylation, type Ie OMIM

DYM 21317 NM_017653.3 100% Smith-McCort dysplasia OMIM Dyggve-Melchior-Clausen disease OMIM

DYNC1H1 2961 NM_001376.4 99% Mental retardation, autosomal dominant 13 OMIM

DYRK1A 3091 NM_001396.3 100% Mental retardation, autosomal dominant 7 OMIM

EBP 3133 NM_006579.2 100% MEND syndrome OMIM Chondrodysplasia punctata, X-linked dominant OMIM

EFTUD2 30858 NM_004247.3 99% Mandibulofacial dysostosis, Guion-Almeida type OMIM

EHMT1 24650 NM_024757.4 98% Kleefstra syndrome OMIM

EIF2AK3 3255 NM_004836.5 99% Wolcott-Rallison syndrome OMIM

ELAC2 14198 NM_018127.6 100% Combined oxidative phosphorylation deficiency 17 OMIM

ELOVL4 14415 NM_022726.3 100% Ichthyosis, spastic quadriplegia, and mental retardation OMIM

ELP2 18248 NM_001242875.1 99% Intellectual disability, spastic diplegia OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) EMX2 3341 NM_004098.3 99% Schizencephaly OMIM

EP300 3373 NM_001429.3 99% Rubinstein-Taybi syndrome 2 OMIM

ERCC1 3433 NM_202001.2 100% Cerebrooculofacioskeletal syndrome 4 OMIM

ERCC2 3434 NM_000400.3 99% Xeroderma pigmentosum, group D OMIM Trichothiodystrophy 1, photosensitive OMIM Cerebrooculofacioskeletal syndrome 2 OMIM ERCC3 3435 NM_000122.1 100% Xeroderma pigmentosum, group B OMIM

ERCC4 3436 NM_005236.2 99% Fanconi anemia, complementation group Q OMIM ?XFE progeroid syndrome OMIM Xeroderma pigmentosum, type F/Cockayne syndrome OMIM ERCC5 3437 NM_000123.3 99% Xeroderma pigmentosum, group G/Cockayne syndrome OMIM Cerebrooculofacioskeletal syndrome 3 OMIM ERCC6 3438 NM_000124.3 100% Cockayne syndrome, type B OMIM Cerebrooculofacioskeletal syndrome 1 OMIM De Sanctis-Cacchione syndrome OMIM ERCC8 3439 NM_000082.3 100% Cockayne syndrome, type A OMIM

ERLIN2 1356 NM_007175.6 100% Spastic paraplegia 18, autosomal recessive OMIM

ESCO2 27230 NM_001017420.2 100% SC phocomelia syndrome OMIM Roberts syndrome OMIM

ETFA 3481 NM_000126.3 100% Glutaric acidemia IIA OMIM

ETFB 3482 NM_001985.2 100% Glutaric acidemia IIB OMIM

ETFDH 3483 NM_004453.3 100% Glutaric acidemia IIC OMIM

ETHE1 23287 NM_014297.3 100% Ethylmalonic encephalopathy OMIM

EVC 3497 NM_153717.2 94% Ellis-van Creveld syndrome OMIM

EVC2 19747 NM_147127.4 100% Ellis-van Creveld syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) EXOSC3 17944 NM_016042.3 100% Pontocerebellar hypoplasia, type 1B OMIM

EZH2 3527 NM_004456.4 94% Weaver syndrome OMIM

FAM126A 24587 NM_032581.3 100% Leukodystrophy, hypomyelinating, 5 OMIM

FAM134B 25964 NM_001034850.2 100% Neuropathy, hereditary sensory and autonomic, type IIB OMIM

FAM20C 22140 NM_020223.3 99% Raine syndrome OMIM

FANCA 3582 NM_000135.2 100% Fanconi anemia, complementation group A OMIM

FANCB 3583 NM_001018113.1 99% Fanconi anemia, complementation group B OMIM

FANCC 3584 NM_000136.2 100% Fanconi anemia, complementation group C OMIM

FANCD2 3585 NM_033084.3 100% Fanconi anemia, complementation group D2 OMIM

FANCE 3586 NM_021922.2 99% Fanconi anemia, complementation group E OMIM

FANCF 3587 NM_022725.3 100% Fanconi anemia, complementation group F OMIM

FANCG 3588 NM_004629.1 99% Fanconi anemia, complementation group G OMIM

FANCI 25568 NM_001113378.1 100% Fanconi anemia, complementation group I OMIM

FANCL 20748 NM_018062.3 100% Fanconi anemia, complementation group L OMIM

FBN1 3603 NM_000138.4 99% Weill-Marchesani syndrome 2, dominant OMIM

FBP1 3606 NM_000507.3 100% Fructose-1,6-bisphosphatase deficiency OMIM

FGD1 3663 NM_004463.2 96% Mental retardation, X-linked syndromic 16 OMIM Aarskog-Scott syndrome OMIM

FGFR1 3688 NM_023110.2 100% Hartsfield syndrome OMIM Pfeiffer syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) FGFR2 3689 NM_000141.4 97% Beare-Stevenson cutis gyrata syndrome OMIM Apert syndrome OMIM Crouzon syndrome OMIM Saethre-Chotzen syndrome OMIM Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM FGFR3 3690 NM_000142.4 96% Achondroplasia OMIM SADDAN OMIM Muenke syndrome OMIM FH 3700 NM_000143.3 99% Fumarase deficiency OMIM

FIG4 16873 NM_014845.5 100% Yunis-Varon syndrome OMIM Charcot-Marie-Tooth disease, type 4J OMIM

FKRP 17997 NM_024301.4 94% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 OMIM Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 OMIM FKTN 3622 NM_001079802.1 100% Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 OMIM Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 OMIM FLNA 3754 NM_001456.3 99% FG syndrome 2 OMIM Melnick-Needles syndrome OMIM Congenital short bowel syndrome OMIM Intestinal pseudoobstruction, neuronal OMIM Heterotopia, periventricular OMIM Otopalatodigital syndrome, type II OMIM Frontometaphyseal dysplasia OMIM Otopalatodigital syndrome, type I OMIM FLVCR2 20105 NM_017791.2 91% Proliferative vasculopathy and hydraencephaly- hydrocephaly syndrome OMIM

FMR1 3775 NM_002024.5 99% Fragile X syndrome OMIM

FOLR1 3791 NM_016725.2 99% Neurodegeneration due to cerebral folate transport deficiency OMIM

FOXG1 3811 NM_005249.4 79% Rett syndrome, congenital variant OMIM

FOXP1 3823 NM_032682.5 100% Mental retardation with language impairment and with or without autistic features OMIM

FOXRED1 26927 NM_017547.3 100% Mitochondrial complex I deficiency OMIM Leigh syndrome due to mitochondrial complex I deficiency OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) FRAS1 19185 NM_025074.6 99% Fraser syndrome OMIM

FREM2 25396 NM_207361.5 99% Fraser syndrome OMIM

FTCD 3974 NM_006657.2 94% Glutamate formiminotransferase deficiency OMIM

FTL 3999 NM_000146.3 100% L-ferritin deficiency, dominant and recessive OMIM Neurodegeneration with brain iron accumulation 3 OMIM

FTO 24678 NM_001080432.2 95% Growth retardation, developmental delay, facial dysmorphism OMIM

FTSJ1 13254 NM_012280.3 100% Mental retardation, X-linked 9 OMIM

FUCA1 4006 NM_000147.4 100% Fucosidosis OMIM

GAA 4065 NM_000152.3 100% Glycogen storage disease II OMIM

GABRA1 4075 NM_000806.5 100% Epileptic encephalopathy, early infantile, 19 OMIM

GABRB3 4083 NM_000814.5 100% OMIM PubMed

GAD1 4092 NM_000817.2 99% ?Cerebral palsy, spastic quadriplegic, 1 OMIM

GALC 4115 NM_000153.3 99% Krabbe disease OMIM

GALE 4116 NM_000403.3 100% Galactose epimerase deficiency OMIM

GALT 4135 NM_000155.3 100% Galactosemia OMIM

GAMT 4136 NM_000156.5 98% Cerebral creatine deficiency syndrome 2 OMIM

GATM 4175 NM_001482.2 100% Cerebral creatine deficiency syndrome 3 OMIM

GBA 4177 NM_001005741.2 99% Gaucher disease, type III OMIM Gaucher disease, type II OMIM Gaucher disease, type I OMIM Gaucher disease, perinatal lethal OMIM Gaucher disease, type IIIC OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) GCDH 4189 NM_000159.3 100% Glutaricaciduria, type I OMIM

GCH1 4193 NM_000161.2 99% Hyperphenylalaninemia, BH4-deficient, B OMIM

GCSH 4208 NM_004483.4 95% Glycine encephalopathy OMIM

GDI1 4226 NM_001493.2 94% Mental retardation, X-linked 41 OMIM

GFAP 4235 NM_002055.4 99% Alexander disease OMIM

GFER 4236 NM_005262.2 100% Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay OMIM

GFM1 13780 NM_024996.5 99% Combined oxidative phosphorylation deficiency 1 OMIM

GJA1 4274 NM_000165.4 100% Oculodentodigital dysplasia, autosomal recessive OMIM Oculodentodigital dysplasia OMIM

GJC2 17494 NM_020435.3 77% Spastic paraplegia 44, autosomal recessive OMIM Leukodystrophy, hypomyelinating, 2 OMIM

GK 4289 NM_000167.5 100% Glycerol kinase deficiency OMIM

GLB1 4298 NM_000404.2 100% GM1-gangliosidosis, type II OMIM GM1-gangliosidosis, type I OMIM GM1-gangliosidosis, type III OMIM GLDC 4313 NM_000170.2 98% Glycine encephalopathy OMIM

GLI2 4318 NM_005270.4 94% Holoprosencephaly-9 OMIM Culler-Jones syndrome OMIM

GLI3 4319 NM_000168.5 99% Pallister-Hall syndrome OMIM Greig cephalopolysyndactyly syndrome OMIM

GLUD1 4335 NM_005271.3 100% Hyperinsulinism-hyperammonemia syndrome OMIM

GLUL 4341 NM_002065.6 100% Glutamine deficiency, congenital OMIM

GM2A 4367 NM_000405.4 100% GM2-gangliosidosis, AB variant OMIM

GNAS 4392 NM_000516.4 99% Pseudopseudohypoparathyroidism OMIM Pseudohypoparathyroidism Ic OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) GNPAT 4416 NM_014236.3 99% Rhizomelic chondrodysplasia punctata, type 2 OMIM

GNPTAB 29670 NM_024312.4 99% Mucolipidosis III alpha/beta OMIM Mucolipidosis II alpha/beta OMIM

GNPTG 23026 NM_032520.4 98% Mucolipidosis III gamma OMIM

GNS 4422 NM_002076.3 100% Mucopolysaccharidosis type IIID OMIM

GPC3 4451 NM_004484.3 99% Simpson-Golabi-Behmel syndrome, type 1 OMIM

GPR56 4512 NM_005682.6 100% Polymicrogyria, bilateral perisylvian OMIM Polymicrogyria, bilateral frontoparietal OMIM

GPSM2 29501 NM_013296.4 99% Chudley-McCullough syndrome OMIM

GRIA3 4573 NM_000828.4 100% Mental retardation, X-linked 94 OMIM

GRIK2 4580 NM_021956.4 100% Mental retardation, autosomal recessive, 6 OMIM

GRIN1 4584 NM_007327.3 100% Mental retardation, autosomal dominant 8 OMIM

GRIN2A 4585 NM_000833.4 99% Epilepsy, focal, with speech disorder and with or without mental retardation OMIM

GRIN2B 4586 NM_000834.3 98% Mental retardation, autosomal dominant 6 OMIM Epileptic encephalopathy, early infantile, 27 OMIM

GRM1 4593 NM_001278066.1 100% Spinocerebellar ataxia, autosomal recessive 13 OMIM

GTF2H5 21157 NM_207118.2 100% Trichothiodystrophy 3, photosensitive OMIM

GUSB 4696 NM_000181.3 100% Mucopolysaccharidosis VII OMIM

HADH 4799 NM_005327.4 100% 3-hydroxyacyl-CoA dehydrogenase deficienc OMIM

HCCS 4837 NM_005333.4 100% Linear skin defects with multiple congenital anomalies 1 OMIM

HCN1 4845 NM_021072.3 98% Epileptic encephalopathy, early infantile, 24 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) HDAC4 14063 NM_006037.3 100% chromosome 2q37 deletion syndrome OMIM

HDAC8 13315 NM_018486.2 99% Cornelia de Lange syndrome 5 OMIM Wilson-Turner syndrome OMIM

HESX1 4877 NM_003865.2 100% Growth hormone deficiency with pituitary anomalies OMIM Septooptic dysplasia OMIM Pituitary hormone deficiency, combined, 5 OMIM HEXA 4878 NM_000520.4 100% Tay-Sachs disease OMIM GM2-gangliosidosis, several forms OMIM

HEXB 4879 NM_000521.3 100% Sandhoff disease, infantile, juvenile, and adult forms OMIM

HGSNAT 26527 NM_152419.2 94% Mucopolysaccharidosis type IIIC (Sanfilippo C) OMIM

HIBCH 4908 NM_014362.3 100% 3-hydroxyisobutryl-CoA hydrolase deficiency OMIM

HLCS 4976 NM_000411.6 100% Holocarboxylase synthetase deficiency OMIM

HMGCL 5005 NM_000191.2 100% HMG-CoA lyase deficiency OMIM

HMGCS2 5008 NM_005518.3 98% HMG-CoA synthase-2 deficiency OMIM

HOXA1 5099 NM_005522.4 99% Athabaskan brainstem dysgenesis syndrome OMIM Bosley-Salih-Alorainy syndrome OMIM

HPD 5147 NM_002150.2 100% Tyrosinemia, type III OMIM

HPRT1 5157 NM_000194.2 99% Lesch-Nyhan syndrome OMIM

HRAS 5173 NM_005343.2 100% Costello syndrome OMIM

HSD17B10 4800 NM_004493.2 100% ?Mental retardation, X-linked syndromic 10 OMIM 17-beta-hydroxysteroid dehydrogenase X deficiency OMIM HSD17B4 5213 NM_000414.3 100% Perrault syndrome 1 OMIM D-bifunctional protein deficiency OMIM

HSPD1 5261 NM_002156.4 99% Leukodystrophy, hypomyelinating, 4 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) HSPG2 5273 NM_005529.6 99% Schwartz-Jampel syndrome, type 1 OMIM

HUWE1 30892 NM_031407.6 99% Mental retardation, X-linked syndromic, Turner type OMIM

HYLS1 26558 NM_145014.2 100% Hydrolethalus syndrome OMIM

IDS 5389 NM_000202.6 96% Mucopolysaccharidosis II OMIM

IDUA 5391 NM_000203.4 99% Mucopolysaccharidosis Ih OMIM

IFIH1 18873 NM_022168.3 100% Aicardi-Goutieres syndrome 7 OMIM

IFT140 29077 NM_014714.3 99% Short-rib thoracic dysplasia 9 with or without polydactyly OMIM

IGBP1 5461 NM_001551.2 100% Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia OMIM

IGF1 5464 NM_000618.3 100% Growth retardation with deafness and mental retardation due to IGF1 deficiency OMIM

IGF1R 5465 NM_000875.4 99% Insulin-like growth factor I, resistance to OMIM

IL1RAPL1 5996 NM_014271.3 99% Mental retardation, X-linked 21/34 OMIM

INPP5E 21474 NM_019892.4 93% Mental retardation, truncal obesity, retinal dystrophy, and micropenis OMIM Joubert syndrome 1 OMIM IQSEC2 29059 NM_001111125.2 89% Mental retardation, X-linked 1 OMIM

IRX5 14361 NM_005853.5 99% Hamamy syndrome OMIM

ISPD 37276 NM_001101426.3 99% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 OMIM

ITCH 13890 NM_031483.5 99% Autoimmune disease, multisystem, with facial dysmorphism OMIM

ITGA7 6143 NM_002206.2 100% Muscular dystrophy, congenital, due to ITGA7 deficiency OMIM

ITPR1 6180 NM_002222.5 99% Spinocerebellar ataxia 29, congenital nonprogressive OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) IVD 6186 NM_002225.3 100% Isovaleric acidemia OMIM

JAG1 6188 NM_000214.2 97% Alagille syndrome OMIM

JAM3 15532 NM_032801.4 100% Hemorrhagic destruction of the brain, subependymal calcification, and cataracts OMIM

KANK1 19309 NM_015158.3 100% Cerebral palsy, spastic quadriplegic, 2 OMIM

KANSL1 24565 NM_001193466.1 99% Koolen-De Vries syndrome OMIM

KAT6B 17582 NM_012330.3 99% SBBYSS syndrome OMIM Genitopatellar syndrome OMIM

KCNJ10 6256 NM_002241.4 100% SESAME syndrome OMIM

KCNMA1 6284 NM_002247.3 100% Generalized epilepsy and paroxysmal dyskinesia OMIM

KCNQ2 6296 NM_172107.2 99% Seizures, benign neonatal, 1 OMIM Myokymia OMIM Epileptic encephalopathy, early infantile, 7 OMIM KCTD7 21957 NM_153033.4 99% Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM

KDM5C 11114 NM_004187.3 100% Mental retardation, X-linked, syndromic, Claes-Jensen type OMIM

KDM6A 12637 NM_021140.3 99% Kabuki syndrome 2 OMIM

KIAA0226 28991 NM_001145642.3 100% ?Spinocerebellar ataxia, autosomal recessive 15 OMIM

KIAA1279 23419 NM_015634.3 97% Goldberg-Shprintzen megacolon syndrome OMIM

KIAA2022 29433 NM_001008537.2 100% Mental retardation, X-linked 98 OMIM

KIF11 6388 NM_004523.3 100% Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation OMIM

KIF1A 888 NM_004321.6 99% Spastic paraplegia 30, autosomal recessive OMIM Neuropathy, hereditary sensory, type IIC OMIM Mental retardation, autosomal dominant 9 OMIM KIF7 30497 NM_198525.2 94% Joubert syndrome 12 OMIM Acrocallosal syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) KIRREL3 23204 NM_032531.3 100% Mental retardation, autosomal dominant 4 OMIM

KMT2D 7133 NM_003482.3 95% Kabuki syndrome 1 OMIM

KRAS 6407 NM_004985.4 100% Cardiofaciocutaneous syndrome 2 OMIM Noonan syndrome 3 OMIM

L1CAM 6470 NM_000425.4 100% Hydrocephalus with Hirschsprung disease OMIM Hydrocephalus with congenital idiopathic intestinal pseudoobstruction OMIM Hydrocephalus due to aqueductal stenosis OMIM CRASH syndrome OMIM Corpus callosum, partial agenesis of OMIM MASA syndrome OMIM L2HGDH 20499 NM_024884.2 99% L-2-hydroxyglutaric aciduria OMIM

LAMA1 6481 NM_005559.3 99% Poretti-Boltshauser syndrome OMIM

LAMA2 6482 NM_000426.3 99% Muscular dystrophy, congenital merosin-deficient OMIM Muscular dystrophy, congenital, due to partial LAMA2 deficiency OMIM LAMB1 6486 NM_002291.2 100% Lissencephaly 5 OMIM

LAMC3 6494 NM_006059.3 99% Cortical malformations, occipital OMIM

LAMP2 6501 NM_002294.2 100% Danon disease OMIM

LARGE 6511 NM_004737.4 100% Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 OMIM LHX3 6595 NM_014564.3 95% Pituitary hormone deficiency, combined, 3 OMIM

LHX4 21734 NM_033343.3 97% Pituitary hormone deficiency, combined, 4 OMIM

LIG4 6601 NM_002312.3 100% LIG4 syndrome OMIM

LINS 30922 NM_001040616.2 97% Mental retardation, autosomal recessive 27 OMIM

LMBRD1 23038 NM_018368.3 100% Methylmalonic aciduria and homocystinuria, cblF type OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) LRP2 6694 NM_004525.2 99% Donnai-Barrow syndrome OMIM

LRP5 6697 NM_002335.3 97% Osteoporosis-pseudoglioma syndrome OMIM

LRPPRC 15714 NM_133259.3 99% Leigh syndrome, French-Canadian type OMIM

LYST 1968 NM_000081.3 99% Chediak-Higashi syndrome OMIM

MAGEL2 6814 NM_019066.4 88% Schaaf-Yang syndrome OMIM

MAN1B1 6823 NM_016219.4 100% Mental retardation, autosomal recessive 15 OMIM

MAN2B1 6826 NM_000528.3 99% Mannosidosis, alpha-, types I and II OMIM

MANBA 6831 NM_005908.3 100% Mannosidosis, beta OMIM

MAOA 6833 NM_000240.3 100% Brunner syndrome OMIM

MAP2K1 6840 NM_002755.3 100% Cardiofaciocutaneous syndrome 3 OMIM

MAP2K2 6842 NM_030662.3 97% Cardiofaciocutaneous syndrome 4 OMIM

MASP1 6901 NM_139125.3 100% 3MC syndrome 1 OMIM

MAT1A 6903 NM_000429.2 99% Methionine adenosyltransferase deficiency, autosomal recessive OMIM Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency OMIM MBD5 20444 NM_018328.4 99% Mental retardation, autosomal dominant 1 OMIM

MCCC1 6936 NM_020166.4 100% 3-Methylcrotonyl-CoA carboxylase 1 deficiency OMIM

MCCC2 6937 NM_022132.4 100% 3-Methylcrotonyl-CoA carboxylase 2 deficiency OMIM

MCOLN1 13356 NM_020533.2 99% Mucolipidosis IV OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) MCPH1 6954 NM_024596.3 100% Microcephaly 1, primary, autosomal recessive OMIM

MECP2 6990 NM_004992.3 100% Mental retardation, X-linked syndromic, Lubs type OMIM Encephalopathy, neonatal severe OMIM Rett syndrome, preserved speech variant OMIM Rett syndrome, atypical OMIM Rett syndrome OMIM Mental retardation, X-linked, syndromic 13 OMIM MED12 11957 NM_005120.2 99% Lujan-Fryns syndrome OMIM Opitz-Kaveggia syndrome OMIM Ohdo syndrome, X-linked OMIM MED17 2375 NM_004268.4 99% Microcephaly, postnatal progressive, with seizures and brain atrophy OMIM

MED23 2372 NM_015979.3 99% Mental retardation, autosomal recessive 18 OMIM

MEF2C 6996 NM_002397.4 100% Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations OMIM Chromosome 5q14.3 deletion syndrome OMIM MEGF10 29634 NM_032446.2 100% Myopathy, areflexia, respiratory distress, and dysphagia, early-onset OMIM

MFSD8 28486 NM_152778.2 100% Ceroid lipofuscinosis, neuronal, 7 OMIM

MGAT2 7045 NM_002408.3 99% Congenital disorder of glycosylation, type IIa OMIM

MGP 7060 NM_000900.3 100% Keutel syndrome OMIM

MID1 7095 NM_000381.3 97% Opitz GBBB syndrome, type I OMIM

MKKS 7108 NM_018848.3 99% McKusick-Kaufman syndrome OMIM Bardet-Biedl syndrome 6 OMIM

MKS1 7121 NM_017777.3 100% Meckel syndrome 1 OMIM Bardet-Biedl syndrome 13 OMIM

MLC1 17082 NM_015166.3 100% Megalencephalic leukoencephalopathy with subcortical cysts OMIM

MLYCD 7150 NM_012213.2 93% Malonyl-CoA decarboxylase deficiency OMIM

MMAA 18871 NM_172250.2 99% Methylmalonic aciduria, vitamin B12-responsive OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) MMAB 19331 NM_052845.3 100% Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type OMIM MMACHC 24525 NM_015506.2 95% Methylmalonic aciduria and homocystinuria, cblC type OMIM

MMADHC 25221 NM_015702.2 100% Methylmalonic aciduria, cblD type, variant 2 OMIM Methylmalonic aciduria and homocystinuria, cblD type OMIM Homocystinuria, cblD type, variant 1 OMIM MOCS1 7190 NM_005943.5 100% Molybdenum cofactor deficiency A OMIM

MOCS2 7193 NM_176806.3 100% Molybdenum cofactor deficiency B OMIM

MOGS 24862 NM_006302.2 100% Congenital disorder of glycosylation, type IIb OMIM

MPDU1 7207 NM_004870.3 100% Congenital disorder of glycosylation, type If OMIM

MPLKIP 16002 NM_138701.3 100% Trichothiodystrophy 4, nonphotosensitive OMIM

MPV17 7224 NM_002437.4 100% Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) OMIM

MRE11A 7230 NM_005591.3 100% Ataxia-telangiectasia-like disorder OMIM

MTHFR 7436 NM_005957.4 100% Homocystinuria due to MTHFR deficiency OMIM

MTO1 19261 NM_012123.3 100% Combined oxidative phosphorylation deficiency 10 OMIM

MTR 7468 NM_000254.2 100% {Neural tube defects, folate-sensitive, susceptibility to} OMIM Homocystinuria-megaloblastic anemia, cblG complementation type OMIM MTRR 7473 NM_002454.2 100% Homocystinuria-megaloblastic anemia, cbl E type OMIM

MUT 7526 NM_000255.3 99% Methylmalonic aciduria, mut(0) type OMIM

MYCN 7559 NM_005378.5 78% Feingold syndrome OMIM

MYH3 7573 NM_002470.3 100% Arthrogryposis, distal, type 2A OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) MYO5A 7602 NM_000259.3 99% Griscelli syndrome, type 1 OMIM

NAA10 18704 NM_003491.3 98% Ogden syndrome OMIM ?Microphthalmia, syndromic 1 OMIM

NAGA 7631 NM_000262.2 100% Schindler disease, type I OMIM Kanzaki disease OMIM Schindler disease, type III OMIM NAGLU 7632 NM_000263.3 90% Mucopolysaccharidosis type IIIB (Sanfilippo B) OMIM

NAGS 17996 NM_153006.2 98% N-acetylglutamate synthase deficiency OMIM

NBN 7652 NM_002485.4 100% Nijmegen breakage syndrome OMIM

NDE1 17619 NM_001143979.1 98% Lissencephaly 4 (with microcephaly) OMIM ?Microhydranencephaly OMIM

NDP 7678 NM_000266.3 100% Norrie disease OMIM

NDST1 7680 NM_001543.4 100% Mental retardation, autosomal recessive 46 OMIM

NDUFA1 7683 NM_004541.3 100% Mitochondrial complex I deficiency OMIM

NDUFAF2 28086 NM_174889.4 100% Mitochondrial complex I deficiency OMIM Leigh syndrome OMIM

NDUFS1 7707 NM_005006.6 100% Mitochondrial complex I deficiency OMIM

NDUFS4 7711 NM_002495.2 100% Mitochondrial complex I deficiency OMIM Leigh syndrome OMIM

NDUFS7 7714 NM_024407.4 100% Leigh syndrome OMIM

NDUFS8 7715 NM_002496.3 100% Leigh syndrome due to mitochondrial complex I deficiency OMIM

NDUFV1 7716 NM_007103.3 99% Mitochondrial complex I deficiency OMIM

NEK1 7744 NM_012224.2 100% Short-rib thoracic dysplasia 6 with or without polydactyly OMIM

NEU1 7758 NM_000434.3 100% Sialidosis, type II OMIM Sialidosis, type I OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) NF1 7765 NM_000267.3 99% Watson syndrome OMIM Neurofibromatosis-Noonan syndrome OMIM Neurofibromatosis, type 1 OMIM NFIX 7788 NM_002501.3 97% Sotos syndrome 2 OMIM Marshall-Smith syndrome OMIM

NFU1 16287 NM_001002755.2 100% Multiple mitochondrial dysfunctions syndrome 1 OMIM

NHP2 14377 NM_017838.3 100% Dyskeratosis congenita, autosomal recessive 2 OMIM

NHS 7820 NM_198270.3 98% Nance-Horan syndrome OMIM

NIPBL 28862 NM_133433.3 99% Cornelia de Lange syndrome 1 OMIM

NKX2-1 11825 NM_001079668.2 97% Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Learning difficulties mental retardation OMIM PubMed NOP10 14378 NM_018648.3 100% Dyskeratosis congenita, autosomal recessive 1 OMIM

NOTCH1 7881 NM_017617.3 98% Adams-Oliver syndrome 5 OMIM

NPC1 7897 NM_000271.4 99% Niemann-Pick disease, type D OMIM Niemann-Pick disease, type C1 OMIM

NPC2 14537 NM_006432.3 100% Niemann-pick disease, type C2 OMIM

NPHP1 7905 NM_000272.3 99% Senior-Loken syndrome-1 OMIM Nephronophthisis 1, juvenile OMIM Joubert syndrome 4 OMIM NPHP3 7907 NM_153240.4 99% Renal-hepatic-pancreatic dysplasia 1 OMIM

NR2F1 7975 NM_005654.5 89% Bosch-Boonstra-Schaaf optic atrophy syndrome OMIM

NRAS 7989 NM_002524.4 98% Noonan syndrome 6 OMIM

NRXN1 8008 NM_001135659.1 98% Pitt-Hopkins-like syndrome 2 OMIM

NSD1 14234 NM_022455.4 99% Beckwith-Wiedemann syndrome OMIM Sotos syndrome 1 OMIM

NSDHL 13398 NM_015922.2 100% CK syndrome OMIM CHILD syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) NSUN2 25994 NM_017755.5 100% Mental retardation, autosomal recessive 5 OMIM

NUBPL 20278 NM_025152.2 99% Mitochondrial complex I deficiency OMIM

NUP62 8066 NM_001193357.1 85% Striatonigral degeneration, infantile OMIM

OCRL 8108 NM_000276.3 99% Lowe syndrome OMIM Dent disease 2 OMIM

OFD1 2567 NM_003611.2 99% Simpson-Golabi-Behmel syndrome, type 2 OMIM Orofaciodigital syndrome I OMIM Joubert syndrome 10 OMIM OPHN1 8148 NM_002547.2 98% Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance OMIM

ORC1 8487 NM_004153.3 99% Meier-Gorlin syndrome 1 OMIM

OTC 8512 NM_000531.5 100% Ornithine transcarbamylase deficiency OMIM

OTX2 8522 NM_001270524.1 100% Retinal dystrophy, early-onset, with or without pituitary dysfunction OMIM Microphthalmia, syndromic 5 OMIM PAFAH1B1 8574 NM_000430.3 100% Lissencephaly 1 OMIM Subcortical laminar heterotopia OMIM

PAH 8582 NM_000277.1 100% Phenylketonuria OMIM

PAK3 8592 NM_002578.3 99% Mental retardation, X-linked 30/47 OMIM

PALB2 26144 NM_024675.3 100% Fanconi anemia, complementation group N OMIM

PAX8 8622 NM_003466.3 100% Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia OMIM

PC 8636 NM_000920.3 100% Thrombophilia due to protein C deficiency, autosomal recessive OMIM Pyruvate carboxylase deficiency OMIM PCBD1 8646 NM_000281.3 97% Hyperphenylalaninemia, BH4-deficient, D OMIM

PCCA 8653 NM_000282.3 97% Propionicacidemia OMIM

PCCB 8654 NM_000532.4 100% Propionicacidemia OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) PCDH19 14270 NM_001184880.1 100% Epileptic encephalopathy, early infantile, 9 OMIM

PCNT 16068 NM_006031.5 99% Microcephalic osteodysplastic primordial dwarfism, type II OMIM

PDE4D 8783 NM_001104631.1 95% Acrodysostosis 2, with or without hormone resistance OMIM

PDHA1 8806 NM_000284.3 100% Pyruvate dehydrogenase E1-alpha deficiency OMIM

PDHX 21350 NM_003477.2 99% Lacticacidemia due to PDX1 deficiency OMIM

PDSS1 17759 NM_014317.3 89% Coenzyme Q10 deficiency, primary, 2 OMIM

PDSS2 23041 NM_020381.3 99% Coenzyme Q10 deficiency, primary, 3 OMIM

PEPD 8840 NM_000285.3 99% Prolidase deficiency OMIM

PEX1 8850 NM_000466.2 99% Heimler syndrome 1 OMIM Peroxisome biogenesis disorder 1B (NALD/IRD) OMIM Peroxisome biogenesis disorder 1A (Zellweger) OMIM PEX10 8851 NM_153818.1 96% Peroxisome biogenesis disorder 6B OMIM Peroxisome biogenesis disorder 6A (Zellweger) OMIM

PEX12 8854 NM_000286.2 100% Peroxisome biogenesis disorder 3B OMIM Peroxisome biogenesis disorder 3A (Zellweger) OMIM

PEX13 8855 NM_002618.3 100% Peroxisome biogenesis disorder 11B OMIM Peroxisome biogenesis disorder 11A (Zellweger) OMIM

PEX14 8856 NM_004565.2 100% Peroxisome biogenesis disorder 13A (Zellweger) OMIM

PEX16 8857 NM_004813.2 100% Peroxisome biogenesis disorder 8B OMIM Peroxisome biogenesis disorder 8A, (Zellweger) OMIM

PEX19 9713 NM_002857.3 100% Peroxisome biogenesis disorder 12A (Zellweger) OMIM

PEX2 9717 NM_000318.2 100% Peroxisome biogenesis disorder 5B OMIM Peroxisome biogenesis disorder 5A (Zellweger) OMIM

PEX26 22965 NM_017929.5 92% Peroxisome biogenesis disorder 7B OMIM Peroxisome biogenesis disorder 7A (Zellweger) OMIM

PEX3 8858 NM_003630.2 100% Peroxisome biogenesis disorder 10A (Zellweger) OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) PEX5 9719 NM_001131025.1 100% Rhizomelic chondrodysplasia punctata, type 5 OMIM Peroxisome biogenesis disorder 2B OMIM Peroxisome biogenesis disorder 2A (Zellweger) OMIM PEX6 8859 NM_000287.3 99% Peroxisome biogenesis disorder 4B OMIM Peroxisome biogenesis disorder 4A (Zellweger) OMIM

PEX7 8860 NM_000288.3 100% Rhizomelic chondrodysplasia punctata, type 1 OMIM Peroxisome biogenesis disorder 9B OMIM

PGK1 8896 NM_000291.3 99% Phosphoglycerate kinase 1 deficiency OMIM

PHF6 18145 NM_032458.2 100% Borjeson-Forssman-Lehmann syndrome OMIM

PHF8 20672 NM_015107.2 100% Mental retardation syndrome, X-linked, Siderius type OMIM

PHGDH 8923 NM_006623.3 100% Phosphoglycerate dehydrogenase deficiency OMIM Neu-Laxova syndrome 1 OMIM

PHIP 15673 NM_017934.5 99% PHIP-associated mental retardation

PIGA 8957 NM_002641.3 100% Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM

PIGL 8966 NM_004278.3 100% CHIME syndrome OMIM

PIGN 8967 NM_176787.4 99% Multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM

PIGO 23215 NM_032634.3 100% Hyperphosphatasia with mental retardation syndrome 2 OMIM

PIGV 26031 NM_017837.3 99% Hyperphosphatasia with mental retardation syndrome 1 OMIM

PIK3CA 8975 NM_006218.2 95% Cowden syndrome 5 OMIM Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic OMIM PIK3R2 8980 NM_005027.3 93% Megalencephaly-polymicrogyria-polydactyly- hydrocephalus syndrome 1 OMIM

PLA2G6 9039 NM_003560.2 99% Infantile neuroaxonal dystrophy 1 OMIM Neurodegeneration with brain iron accumulation 2B OMIM PLCB1 15917 NM_015192.3 100% Epileptic encephalopathy, early infantile, 12 OMIM

PLOD3 9083 NM_001084.4 96% Lysyl hydroxylase 3 deficiency OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) PLP1 9086 NM_000533.4 99% Spastic paraplegia 2, X-linked OMIM Pelizaeus-Merzbacher disease OMIM

PMM2 9115 NM_000303.2 100% Congenital disorder of glycosylation, type Ia OMIM

PNKP 9154 NM_007254.3 100% Microcephaly, seizures, and developmental delay OMIM Ataxia-oculomotor apraxia 4 OMIM

POGZ 18801 NM_015100.3 100% White-Sutton syndrome OMIM

POLG 9179 NM_002693.2 100% Mitochondrial DNA depletion syndrome 4A (Alpers type) OMIM Mitochondrial DNA depletion syndrome 4B (MNGIE type) OMIM Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) OMIM POLR3A 30074 NM_007055.3 99% Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM POLR3B 30348 NM_018082.5 100% Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM POMGNT1 19139 NM_017739.3 100% Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 OMIM POMGNT2 25902 NM_032806.5 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 OMIM

POMT1 9202 NM_007171.3 100% Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 OMIM Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 OMIM POMT2 19743 NM_013382.5 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 OMIM Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 OMIM Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 OMIM PORCN 17652 NM_203475.2 100% Focal dermal hypoplasia OMIM

POU1F1 9210 NM_000306.3 100% Pituitary hormone deficiency, combined, 1 OMIM

PPP2R1A 9302 NM_014225.5 100% Mental retardation, autosomal dominant 36 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) PPT1 9325 NM_000310.3 100% Ceroid lipofuscinosis, neuronal, 1 OMIM

PQBP1 9330 NM_005710.2 100% Renpenning syndrome OMIM

PRKAR1A 9388 NM_002734.4 99% Acrodysostosis 1, with or without hormone resistance OMIM

PROP1 9455 NM_006261.4 95% Pituitary hormone deficiency, combined, 2 OMIM

PRPS1 9462 NM_002764.3 100% Arts syndrome OMIM Phosphoribosylpyrophosphate synthetase superactivity OMIM PRRX1 9142 NM_022716.3 100% Agnathia-otocephaly complex OMIM

PRSS12 9477 NM_003619.3 99% Mental retardation, autosomal recessive 1 OMIM

PSAP 9498 NM_002778.2 100% Krabbe disease, atypical OMIM Gaucher disease, atypical OMIM Combined SAP deficiency OMIM Metachromatic leukodystrophy due to SAP-b deficiency OMIM PSAT1 19129 NM_058179.3 100% Neu-Laxova syndrome 2 OMIM ?Phosphoserine aminotransferase deficiency OMIM

PSPH 9577 NM_004577.3 100% Phosphoserine phosphatase deficiency OMIM

PTCH1 9585 NM_000264.3 98% Holoprosencephaly-7 OMIM

PTEN 9588 NM_000314.5 100% Lhermitte-Duclos syndrome OMIM VATER association with macrocephaly and ventriculomegaly OMIM Cowden syndrome 1 OMIM Bannayan-Riley-Ruvalcaba syndrome OMIM Macrocephaly/autism syndrome OMIM PTF1A 23734 NM_178161.2 85% Pancreatic and cerebellar agenesis OMIM

PTPN11 9644 NM_002834.3 95% LEOPARD syndrome 1 OMIM Noonan syndrome 1 OMIM

PTS 9689 NM_000317.2 100% Hyperphenylalaninemia, BH4-deficient, A OMIM

PYCR1 9721 NM_006907.3 100% Cutis laxa, autosomal recessive, type IIIB OMIM Cutis laxa, autosomal recessive, type IIB OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) QDPR 9752 NM_000320.2 100% Hyperphenylalaninemia, BH4-deficient, C OMIM

RAB18 14244 NM_021252.4 99% Warburg micro syndrome 3 OMIM

RAB23 14263 NM_183227.2 100% Carpenter syndrome OMIM

RAB39B 16499 NM_171998.3 97% Mental retardation, X-linked 72 OMIM ?Waisman syndrome OMIM

RAB3GAP1 17063 NM_012233.2 100% Warburg micro syndrome 1 OMIM

RAB3GAP2 17168 NM_012414.3 99% Warburg micro syndrome 2 OMIM Martsolf syndrome OMIM

RAD21 9811 NM_006265.2 100% Cornelia de Lange syndrome 4 OMIM

RAD50 9816 NM_005732.3 99% Nijmegen breakage syndrome-like disorder OMIM

RAD51C 9820 NM_058216.2 100% Fanconi anemia, complementation group O OMIM

RAF1 9829 NM_002880.3 99% LEOPARD syndrome 2 OMIM Noonan syndrome 5 OMIM

RAI1 9834 NM_030665.3 99% Smith-Magenis syndrome OMIM

RANBP2 9848 NM_006267.4 99% {Encephalopathy, acute, infection-induced, 3, susceptibility to} OMIM

RARS2 21406 NM_020320.3 100% Pontocerebellar hypoplasia, type 6 OMIM

RBM10 9896 NM_005676.4 100% TARP syndrome OMIM

RBM28 21863 NM_018077.2 100% ?Alopecia, neurologic defects, and endocrinopathy syndrome OMIM

RECQL4 9949 NM_004260.3 99% Rothmund-Thomson syndrome OMIM Baller-Gerold syndrome OMIM

RELN 9957 NM_005045.3 99% Lissencephaly 2 (Norman-Roberts type) OMIM

RFT1 30220 NM_052859.3 100% Congenital disorder of glycosylation, type In OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) RNASEH2A 18518 NM_006397.2 100% Aicardi-Goutieres syndrome 4 OMIM

RNASEH2B 25671 NM_024570.3 93% Aicardi-Goutieres syndrome 2 OMIM

RNASEH2C 24116 NM_032193.3 100% Aicardi-Goutieres syndrome 3 OMIM

RNASET2 21686 NM_003730.4 100% Leukoencephalopathy, cystic, without megalencephaly OMIM

RNF135 21158 NM_032322.3 95% Macrocephaly, macrosomia, facial dysmorphism syndrome OMIM

RNF168 26661 NM_152617.3 99% RIDDLE syndrome OMIM

ROGDI 29478 NM_024589.2 97% Kohlschutter-Tonz syndrome OMIM

ROR2 10257 NM_004560.3 99% Robinow syndrome, autosomal recessive OMIM Brachydactyly, type B1 OMIM

RPGRIP1L 29168 NM_015272.2 99% Meckel syndrome 5 OMIM Joubert syndrome 7 OMIM COACH syndrome OMIM RPS19 10402 NM_001022.3 100% Diamond-Blackfan anemia 1 OMIM

RPS6KA3 10432 NM_004586.2 98% Mental retardation, X-linked 19 OMIM Coffin-Lowry syndrome OMIM

RYR1 10483 NM_000540.2 98% Neuromuscular disease, congenital, with uniform type 1 fiber OMIM Minicore myopathy with external ophthalmoplegia OMIM Central core disease OMIM SACS 10519 NM_014363.5 100% Spastic ataxia, Charlevoix-Saguenay type OMIM

SAMHD1 15925 NM_015474.3 100% Aicardi-Goutieres syndrome 5 OMIM

SATB2 21637 NM_015265.3 99% Glass syndrome OMIM

SBDS 19440 NM_016038.2 100% Shwachman-Diamond syndrome OMIM

SC5D 10547 NM_006918.4 100% Lathosterolosis OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) SCN1A 10585 NM_001165963.1 100% Epilepsy, generalized, with febrile seizures plus, type 2 OMIM Dravet syndrome OMIM SCN1B 10586 NM_001037.4 93% Epilepsy, generalized, with febrile seizures plus, type 1 OMIM

SCN2A 10588 NM_021007.2 99% Epileptic encephalopathy, early infantile, 11 OMIM

SCN8A 10596 NM_014191.3 99% Epileptic encephalopathy, early infantile, 13 OMIM ?Cognitive impairment with or without cerebellar ataxia OMIM SCO1 10603 NM_004589.3 99% Mitochondrial complex IV deficiency OMIM

SCO2 10604 NM_005138.2 100% Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 OMIM

SDCCAG8 10671 NM_006642.3 100% Senior-Loken syndrome 7 OMIM Bardet-Biedl syndrome 16 OMIM

SDHA 10680 NM_004168.3 96% Mitochondrial respiratory chain complex II deficiency OMIM Leigh syndrome OMIM SDHAF1 33867 NM_001042631.2 99% Mitochondrial complex II deficiency OMIM

SETBP1 15573 NM_015559.2 94% Schinzel-Giedion midface retraction syndrome OMIM Mental retardation, autosomal dominant 29 OMIM

SGSH 10818 NM_000199.3 93% Mucopolysaccharidisis type IIIA (Sanfilippo A) OMIM

SHH 10848 NM_000193.2 92% Holoprosencephaly-3 OMIM Schizencephaly OMIM

SHOC2 15454 NM_007373.3 100% Noonan-like syndrome with loose anagen hair OMIM

SIL1 24624 NM_022464.4 100% Marinesco-Sjogren syndrome OMIM

SIX3 10889 NM_005413.3 99% Schizencephaly OMIM Holoprosencephaly-2 OMIM

SKI 10896 NM_003036.3 96% Shprintzen-Goldberg syndrome OMIM

SLC12A6 10914 NM_133647.1 100% Agenesis of the corpus callosum with peripheral neuropathy OMIM

SLC16A2 10923 NM_006517.4 99% Allan-Herndon-Dudley syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) SLC17A5 10933 NM_012434.4 99% Sialic acid storage disorder, infantile OMIM Salla disease OMIM

SLC19A3 16266 NM_025243.3 99% Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) OMIM

SLC22A5 10969 NM_003060.3 100% Carnitine deficiency, systemic primary OMIM

SLC25A15 10985 NM_014252.3 100% Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome OMIM

SLC25A19 14409 NM_021734.4 98% Microcephaly, Amish type OMIM

SLC25A20 1421 NM_000387.5 100% Carnitine-acylcarnitine translocase deficiency OMIM

SLC25A22 19954 NM_024698.5 100% Epileptic encephalopathy, early infantile, 3 OMIM

SLC2A1 11005 NM_006516.2 99% Stomatin-deficient cryohydrocytosis with neurologic defects OMIM GLUT1 deficiency syndrome 2, childhood onset OMIM GLUT1 deficiency syndrome 1, infantile onset, severe OMIM SLC2A10 13444 NM_030777.3 100% Arterial tortuosity syndrome OMIM

SLC2A2 11006 NM_000340.1 99% Fanconi-Bickel syndrome OMIM

SLC33A1 95 NM_004733.3 100% Congenital cataracts, hearing loss, and neurodegeneration OMIM

SLC35C1 20197 NM_018389.4 100% Congenital disorder of glycosylation, type IIc OMIM

SLC46A1 30521 NM_080669.5 99% Folate malabsorption, hereditary OMIM

SLC4A4 11030 NM_003759.3 99% Renal tubular acidosis, proximal, with ocular abnormalities OMIM

SLC5A5 11040 NM_000453.2 99% Thyroid dyshormonogenesis 1 OMIM

SLC6A3 11049 NM_001044.4 100% Parkinsonism-dystonia, infantile OMIM

SLC6A5 11051 NM_004211.3 99% Hyperekplexia 3 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) SLC6A8 11055 NM_005629.3 91% Cerebral creatine deficiency syndrome 1 OMIM

SLC9A6 11079 NM_006359.2 99% Mental retardation, X-linked syndromic, Christianson type OMIM

SLX4 23845 NM_032444.2 100% Fanconi anemia, complementation group P OMIM

SMAD4 6770 NM_005359.5 81% Myhre syndrome OMIM

SMARCA2 11098 NM_003070.4 97% Nicolaides-Baraitser syndrome OMIM

SMARCA4 11100 NM_001128849.1 99% Mental retardation, autosomal dominant 16 OMIM

SMARCB1 11103 NM_003073.3 100% Mental retardation, autosomal dominant 15 OMIM

SMARCE1 11109 NM_003079.4 100% {Meningioma, familial, susceptibility to}, Coffin Siris OMIM PubMed

SMC1A 11111 NM_006306.3 100% Cornelia de Lange syndrome 2 OMIM

SMC3 2468 NM_005445.3 100% Cornelia de Lange syndrome 3 OMIM

SMOC1 20318 NM_001034852.2 100% Microphthalmia with limb anomalies OMIM

SMPD1 11120 NM_000543.4 99% Niemann-Pick disease, type B OMIM Niemann-Pick disease, type A OMIM

SMS 11123 NM_004595.4 98% Smith-Magenis syndrome OMIM Mental retardation, X-linked, Snyder-Robinson type OMIM SNAP29 11133 NM_004782.3 100% Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome OMIM

SNIP1 30587 NM_024700.3 100% Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM

SOBP 29256 NM_018013.3 93% Mental retardation, anterior maxillary protrusion, and strabismus OMIM

SOS1 11187 NM_005633.3 100% Noonan syndrome 4 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) SOX10 11190 NM_006941.3 98% Waardenburg syndrome, type 2E, with or without neurologic involvement OMIM PCWH syndrome OMIM Waardenburg syndrome, type 4C OMIM SOX2 11195 NM_003106.3 100% Optic nerve hypoplasia and abnormalities of the central nervous system OMIM Microphthalmia, syndromic 3 OMIM SOX3 11199 NM_005634.2 89% Mental retardation, X-linked, with isolated growth hormone deficiency OMIM

SOX9 11204 NM_000346.3 98% Campomelic dysplasia with autosomal sex reversal OMIM Campomelic dysplasia OMIM Acampomelic campomelic dysplasia OMIM SPG11 11226 NM_025137.3 99% Spastic paraplegia 11, autosomal recessive OMIM Charcot-Marie-Tooth disease, axonal, type 2X OMIM

SPR 11257 NM_003124.4 100% Dystonia, dopa-responsive, due to sepiapterin reductase deficiency OMIM

SPRED1 20249 NM_152594.2 95% Legius syndrome OMIM

SPTAN1 11273 NM_001130438.2 99% Epileptic encephalopathy, early infantile, 5 OMIM

SRCAP 16974 NM_006662.2 99% Floating-Harbor syndrome OMIM

SRD5A3 25812 NM_024592.4 100% Kahrizi syndrome OMIM Congenital disorder of glycosylation, type Iq OMIM

SRPX2 30668 NM_014467.2 99% ?Rolandic epilepsy, mental retardation, and speech dyspraxia OMIM

ST3GAL3 10866 NM_006279.3 100% Mental retardation, autosomal recessive 12 OMIM Epileptic encephalopathy, early infantile, 15 OMIM

ST3GAL5 10872 NM_003896.3 94% Amish infantile epilepsy syndrome OMIM

STIL 10879 NM_003035.2 99% Microcephaly 7, primary, autosomal recessive OMIM

STRA6 30650 NM_022369.3 100% Microphthalmia, syndromic 9 OMIM Microphthalmia, isolated, with coloboma 8 OMIM

STXBP1 11444 NM_003165.3 100% Epileptic encephalopathy, early infantile, 4 OMIM

SUCLG1 11449 NM_003849.3 100% Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) SUMF1 20376 NM_182760.3 100% Multiple sulfatase deficiency OMIM

SURF1 11474 NM_003172.3 90% Leigh syndrome, due to COX IV deficiency OMIM

SYN1 11494 NM_133499.2 79% Epilepsy, X-linked, with variable learning disabilities and behavior disorders OMIM

SYNGAP1 11497 NM_006772.2 99% Mental retardation, autosomal dominant 5 OMIM

SYP 11506 NM_003179.2 100% Mental retardation, X-linked 96 OMIM

TAC3 11521 NM_013251.3 100% Hypogonadotropic hypogonadism 10 with or without anosmia OMIM

TACO1 24316 NM_016360.3 96% Mitochondrial complex IV deficiency OMIM

TAF2 11536 NM_003184.3 99% Mental retardation, autosomal recessive 40 OMIM

TAT 11573 NM_000353.2 100% Tyrosinemia, type II OMIM

TAZ 11577 NM_000116.4 100% Barth syndrome OMIM

TBC1D24 29203 NM_001199107.1 100% Myoclonic epilepsy, infantile, familial OMIM Epileptic encephalopathy, early infantile, 16 OMIM DOOR syndrome OMIM TBCE 11582 NM_003193.4 99% Hypoparathyroidism-retardation-dysmorphism syndrome OMIM Kenny-Caffey syndrome, type 1 OMIM TCF4 11634 NM_001083962.1 100% Pitt-Hopkins syndrome OMIM

TCTN1 26113 NM_001082538.2 100% Joubert syndrome 13 OMIM

TCTN2 25774 NM_024809.4 100% Joubert syndrome 24 OMIM ?Meckel syndrome 8 OMIM

TFAP2A 11742 NM_003220.2 98% Branchiooculofacial syndrome OMIM

TFAP2B 11743 NM_003221.3 99% Char syndrome OMIM

TGFBR1 11772 NM_004612.2 93% Loeys-Dietz syndrome 1 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) TGFBR2 11773 NM_003242.5 99% Loeys-Dietz syndrome 2 OMIM

TGIF1 11776 NM_173208.2 100% Holoprosencephaly-4 OMIM

TH 11782 NM_199292.2 99% Segawa syndrome, recessive OMIM

THRA 11796 NM_199334.3 100% Hypothyroidism, congenital, nongoitrous, 6 OMIM

TIMM8A 11817 NM_004085.3 100% Mohr-Tranebjaerg syndrome OMIM Jensen syndrome OMIM

TK2 11831 NM_004614.4 100% Mitochondrial DNA depletion syndrome 2 (myopathic type) OMIM

TMCO1 18188 NM_019026.4 100% Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome OMIM

TMEM165 30760 NM_018475.4 99% Congenital disorder of glycosylation, type IIk OMIM

TMEM216 25018 NM_001173990.2 100% Meckel syndrome 2 OMIM Joubert syndrome 2 OMIM

TMEM237 14432 NM_001044385.2 100% Joubert syndrome 14 OMIM

TMEM67 28396 NM_153704.5 100% Nephronophthisis 11 OMIM Meckel syndrome 3 OMIM Joubert syndrome 6 OMIM COACH syndrome OMIM TMEM70 26050 NM_017866.5 100% Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 OMIM

TPP1 2073 NM_000391.3 100% Spinocerebellar ataxia, autosomal recessive 7 OMIM Ceroid lipofuscinosis, neuronal, 2 OMIM

TRAPPC9 30832 NM_031466.6 100% Mental retardation, autosomal recessive 13 OMIM

TREX1 12269 NM_033629.4 100% Vasculopathy, retinal, with cerebral leukodystrophy OMIM Aicardi-Goutieres syndrome 1, dominant and recessive OMIM TRIM32 16380 NM_012210.3 100% ?Bardet-Biedl syndrome 11 OMIM

TSC1 12362 NM_000368.4 99% Tuberous sclerosis-1 OMIM Focal cortical dysplasia, Taylor balloon cell type OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) TSC2 12363 NM_000548.3 100% Lymphangioleiomyomatosis, somatic OMIM Tuberous sclerosis-2 OMIM

TSEN2 28422 NM_025265.3 99% Pontocerebellar hypoplasia type 2B OMIM

TSEN34 15506 NM_024075.4 99% Pontocerebellar hypoplasia type 2C OMIM

TSEN54 27561 NM_207346.2 96% Pontocerebellar hypoplasia type 2A OMIM ?Pontocerebellar hypoplasia type 5 OMIM Pontocerebellar hypoplasia type 4 OMIM TSPAN7 11854 NM_004615.3 100% Mental retardation, X-linked 58 OMIM

TTC19 26006 NM_017775.3 95% Mitochondrial complex III deficiency, nuclear type 2 OMIM

TTC37 23639 NM_014639.3 99% Trichohepatoenteric syndrome 1 OMIM

TTC8 20087 NM_198309.3 100% Bardet-Biedl syndrome 8 OMIM

TTI2 26262 NM_001102401.2 99% Mental retardation, autosomal recessive 39 OMIM

TUBA1A 20766 NM_006009.3 100% Lissencephaly 3 OMIM

TUBA8 12410 NM_018943.2 97% Polymicrogyria with optic nerve hypoplasia OMIM

TUBB2A 12412 NM_001069.2 85% Cortical dysplasia, complex, with other brain malformations 5 OMIM

TUBB2B 30829 NM_178012.4 94% Polymicrogyria, symmetric or asymmetric OMIM

TUBB4A 20774 NM_006087.3 80% Leukodystrophy, hypomyelinating, 6 OMIM

TUBGCP6 18127 NM_020461.3 99% Microcephaly and chorioretinopathy, autosomal recessive, 1 OMIM

TUFM 12420 NM_003321.4 100% Combined oxidative phosphorylation deficiency 4 OMIM

TUSC3 30242 NM_006765.3 100% Mental retardation, autosomal recessive 7 OMIM

TWIST1 12428 NM_000474.3 77% Craniosynostosis, type 1 OMIM Saethre-Chotzen syndrome with eyelid anomalies OMIM Saethre-Chotzen syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) UBE2A 12472 NM_003336.3 99% Mental retardation, X-linked syndromic, Nascimento-type OMIM

UBE3A 12496 NM_130838.1 100% Angelman syndrome OMIM

UBR1 16808 NM_174916.2 100% Johanson-Blizzard syndrome OMIM

UGT1A1 12530 NM_000463.2 100% Crigler-Najjar syndrome, type I OMIM

UMPS 12563 NM_000373.3 99% Orotic aciduria OMIM

UPF3B 20439 NM_080632.2 100% Mental retardation, X-linked, syndromic 14 OMIM

UQCRB 12582 NM_006294.4 100% Mitochondrial complex III deficiency, nuclear type 3 OMIM

UQCRQ 29594 NM_014402.4 100% Mitochondrial complex III deficiency, nuclear type 4 OMIM

UROC1 26444 NM_144639.2 100% ?Urocanase deficiency OMIM

USP9X 12632 NM_001039590.2 99% Mental retardation, X-linked 99 OMIM

VIPAS39 20347 NM_022067.3 100% Arthrogryposis, renal dysfunction, and cholestasis 2 OMIM

VLDLR 12698 NM_003383.3 99% Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 OMIM

VPS13B 2183 NM_017890.4 99% Cohen syndrome OMIM

VPS33B 12712 NM_018668.4 99% Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM

VRK1 12718 NM_003384.2 100% Pontocerebellar hypoplasia type 1A OMIM

WDPCP 28027 NM_015910.5 98% ?Bardet-Biedl syndrome 15 OMIM

WDR19 18340 NM_025132.3 100% Senior-Loken syndrome 8 OMIM Nephronophthisis 13 OMIM

WDR35 29250 NM_001006657.1 99% Cranioectodermal dysplasia 2 OMIM Short-rib thoracic dysplasia 7 with or without polydactyly OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) WDR45 28912 NM_007075.3 100% Neurodegeneration with brain iron accululation 5 OMIM

WDR62 24502 NM_001083961.1 100% Microcephaly 2, primary, autosomal recessive, with or without cortical malformations OMIM

WNT3 12782 NM_030753.4 99% ?Tetra-amelia syndrome OMIM

WNT4 12783 NM_030761.4 96% SERKAL syndrome OMIM

WNT5A 12784 NM_003392.4 99% Robinow syndrome, autosomal dominant 1 OMIM

XPA 12814 NM_000380.3 99% Xeroderma pigmentosum, group A OMIM

XPNPEP3 28052 NM_022098.3 99% Nephronophthisis-like nephropathy 1 OMIM

XYLT1 15516 NM_022166.3 88% {Pseudoxanthoma elasticum, modifier of severity of} OMIM

YAP1 16262 NM_001130145.2 100% Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation OMIM Coloboma, ocular OMIM ZBTB16 12930 NM_006006.4 99% Skeletal defects, genital hypoplasia, and mental retardation OMIM

ZDHHC15 20342 NM_001146256.1 100% ?Mental retardation, X-linked 91 OMIM

ZDHHC9 18475 NM_016032.3 100% Mental retardation, X-linked syndromic, Raymond type OMIM

ZEB2 14881 NM_014795.3 100% Mowat-Wilson syndrome OMIM

ZFYVE26 20761 NM_015346.3 99% Spastic paraplegia 15, autosomal recessive OMIM

ZIC2 12873 NM_007129.3 84% Holoprosencephaly-5 OMIM

ZNF711 13128 NM_021998.4 100% Mental retardation, X-linked 97 OMIM