Psykisk utviklingshemming og forsinket utvikling

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Psykisk utviklingshemming og forsinket utvikling

Genpanel, versjon v01

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 Transkript >10x Fenotype

AAAS NM_015665.5 100% Achalasia-addisonianism-alacrimia syndrome OMIM

AASS NM_005763.3 100% Saccharopinuria OMIM Hyperlysinemia OMIM

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

ABCC9 NM_005691.3 99% Hypertrichotic osteochondrodysplasia OMIM

ABCD1 NM_000033.3 97% Adrenoleukodystrophy OMIM

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

ABHD5 NM_016006.4 96% Chanarin-Dorfman syndrome OMIM

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

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

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

ACADVL NM_000018.3 100% VLCAD deﬁciency OMIM

ACAT1 NM_000019.3 99% Alpha-methylacetoacetic aciduria OMIM

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

ACOX1 NM_004035.6 100% Peroxisomal acyl-CoA oxidase deﬁciency OMIM

ACSL4 NM_004458.2 99% Mental retardation, X-linked 63 OMIM

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

ACTB NM_001101.3 100% Baraitser-Winter syndrome 1 OMIM

?Dystonia, juvenile-onset OMIM ACTG1 NM_001614.3 100% Baraitser-Winter syndrome 2 OMIM

ACVR1 NM_001105.4 99% Fibrodysplasia ossiﬁcans progressiva OMIM

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

ACY1 NM_000666.2 100% Aminoacylase 1 deﬁciency OMIM

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

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

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

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

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

ADSL NM_000026.2 100% Adenylosuccinase deﬁciency OMIM

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

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

AGA NM_000027.3 100% Aspartylglucosaminuria OMIM

AGK NM_018238.3 100% Sengers syndrome OMIM

Cataract 38, autosomal recessive OMIM AGL NM_000642.2 99% Glycogen storage disease IIIb OMIM

Glycogen storage disease IIIa OMIM AGXT NM_000030.2 100% Hyperoxaluria, primary, type 1 OMIM

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AIFM1 NM_004208.3 100% Cowchock syndrome OMIM

Combined oxidative phosphorylation deﬁciency 6 OMIM AIMP1 NM_004757.3 100% Leukodystrophy, hypomyelinating, 3 OMIM

AKT1 NM_005163.2 100% Cowden syndrome 6 OMIM

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

ALDH18A1 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 NM_000382.2 99% Sjogren-Larsson syndrome OMIM

ALDH4A1 NM_003748.3 99% Hyperprolinemia, type II OMIM

ALDH5A1 NM_001080.3 99% Succinic semialdehyde dehydrogenase deﬁciency OMIM

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

ALDOA NM_000034.3 100% Glycogen storage disease XII OMIM

ALDOB NM_000035.3 100% Fructose intolerance OMIM

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

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

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

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

ALG2 NM_033087.3 100% Myasthenic syndrome, congenital, 14, with tubular aggregates OMIM

?Congenital disorder of glycosylation, type Ii OMIM ALG3 NM_005787.5 100% Congenital disorder of glycosylation, type Id OMIM

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

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

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

ALMS1 NM_015120.4 99% Alstrom syndrome OMIM

ALPL NM_000478.4 100% Hypophosphatasia, infantile OMIM Hypophosphatasia, childhood OMIM ALX1 NM_006982.2 100% ?Frontonasal dysplasia 3 OMIM

ALX3 NM_006492.2 79% Frontonasal dysplasia 1 OMIM

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

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

AMT NM_000481.3 100% Glycine encephalopathy OMIM

ANKRD11 NM_013275.5 100% KBG syndrome OMIM

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

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

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

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

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

APTX NM_175073.2 100% Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM

ARFGEF2 NM_006420.2 99% Periventricular heterotopia with microcephaly OMIM

ARG1 NM_000045.3 100% Argininemia OMIM

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

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

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

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

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

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

ARSA NM_000487.5 100% Metachromatic leukodystrophy OMIM

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

ARX 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 NM_177924.3 100% Spinal muscular atrophy with progressive myoclonic epilepsy OMIM Farber lipogranulomatosis OMIM

ASL NM_000048.3 100% Argininosuccinic aciduria OMIM

ASPA NM_000049.2 99% Canavan disease OMIM

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

ASS1 NM_000050.4 100% Citrullinemia OMIM

ASXL1 NM_015338.5 99% Bohring-Opitz syndrome OMIM

ATIC NM_004044.6 99% AICA-ribosiduria due to ATIC deﬁciency OMIM

ATM NM_000051.3 97% Ataxia-telangiectasia OMIM

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

ATP1A3 NM_152296.4 100% CAPOS syndrome OMIM

Alternating hemiplegia of childhood 2 OMIM

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

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

ATR NM_001184.3 99% Seckel syndrome 1 OMIM

ATRX NM_000489.4 99% Mental retardation-hypotonic facies syndrome, X-linked OMIM Alpha-thalassemia/mental retardation syndrome OMIM

AUH NM_001698.2 100% 3-methylglutaconic aciduria, type I OMIM

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

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

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

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

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

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BCOR NM_017745.5 99% Microphthalmia, syndromic 2 OMIM

BCS1L NM_004328.4 100% Bjornstad syndrome OMIM

Mitochondrial complex III deﬁciency, nuclear type 1 OMIM Leigh syndrome OMIM

BIN1 NM_139343.2 99% Myopathy, centronuclear, autosomal recessive OMIM

BLM NM_000057.3 99% Bloom syndrome OMIM

BMP4 NM_001202.3 100% Orofacial cleft 11 OMIM

Microphthalmia, syndromic 6 OMIM BMPER NM_133468.4 99% Diaphanospondylodysostosis OMIM

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

BRAF NM_004333.4 97% Cardiofaciocutaneous syndrome OMIM Noonan syndrome 7 OMIM

LEOPARD syndrome 3 OMIM

BRAT1 NM_152743.3 95% Rigidity and multifocal seizure syndrome, lethal neonatal OMIM

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

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

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

BSND NM_057176.2 100% Bartter syndrome, type 4a OMIM

BTD NM_000060.3 99% Biotinidase deﬁciency OMIM

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

C12orf57 NM_138425.3 99% Temtamy syndrome OMIM

C12orf65 NM_152269.4 100% Spastic paraplegia 55, autosomal recessive OMIM Combined oxidative phosphorylation deﬁciency 7 OMIM C5orf42 NM_023073.3 88% Orofaciodigital syndrome VI OMIM

Joubert syndrome 17 OMIM

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

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

CACNA1C NM_000719.6 99% Timothy syndrome OMIM

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

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

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

CASK 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 NM_032982.3 100%

CAV1 NM_001753.4 99% ?Lipodystrophy, congenital generalized, type 3 OMIM

?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome OMIM

CBL NM_005188.3 100% Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia OMIM

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

CC2D1A NM_017721.4 100% Mental retardation, autosomal recessive 3 OMIM

CC2D2A NM_001080522.2 99% COACH syndrome OMIM Meckel syndrome 6 OMIM Joubert syndrome 9 OMIM

CCBE1 NM_133459.3 100% Hennekam lymphangiectasia-lymphedema syndrome 1 OMIM

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

CD96 NM_198196.2 98% C syndrome OMIM

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

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

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

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

CDKN1C NM_000076.2 75% IMAGE syndrome OMIM

Beckwith-Wiedemann syndrome OMIM CDON NM_016952.4 99% Holoprosencephaly 11 OMIM

CENPJ NM_018451.4 100% Microcephaly 6, primary, autosomal recessive OMIM

?Seckel syndrome 4 OMIM

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

CEP152 NM_014985.3 99% Seckel syndrome 5 OMIM

Microcephaly 9, primary, autosomal recessive OMIM CEP290 NM_025114.3 99% Meckel syndrome 4 OMIM

?Bardet-Biedl syndrome 14 OMIM CEP41 NM_018718.2 100% Joubert syndrome 15 OMIM

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

CEP63 NM_025180.3 99% ?Seckel syndrome 6 OMIM

CHD2 NM_001271.3 100% Epileptic encephalopathy, childhood-onset OMIM

CHD7 NM_017780.3 100% CHARGE syndrome OMIM

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

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

CLN6 NM_017882.2 99% Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM Ceroid lipofuscinosis, neuronal, 6 OMIM

Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM

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CNKSR2 NM_001168647.1 88% CNKSR2-associated mental retardation

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

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

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

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

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

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

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

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

COL4A1 NM_001845.5 99% Porencephaly 1 OMIM

Brain small vessel disease with or without ocular anomalies OMIM COL4A2 NM_001846.2 100% Porencephaly 2 OMIM

COLEC11 NM_024027.4 100% 3MC syndrome 2 OMIM

COQ2 NM_015697.7 100% Coenzyme Q10 deﬁciency, primary, 1 OMIM

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

COX10 NM_001303.3 100% Mitochondrial complex IV deﬁciency OMIM

Leigh syndrome due to mitochondrial COX4 deﬁciency OMIM COX15 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 NM_001875.4 99% Carbamoylphosphate synthetase I deﬁciency OMIM

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

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

CREBBP NM_004380.2 99% Rubinstein-Taybi syndrome OMIM

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

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

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

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

CTSA NM_000308.2 99% Galactosialidosis OMIM

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

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

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

DAG1 NM_004393.5 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 OMIM

DARS2 NM_018122.4 100% Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation OMIM

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

DCAF17 NM_025000.3 99% Woodhouse-Sakati syndrome OMIM

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

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

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

DDX11 NM_030653.3 100% Warsaw breakage syndrome OMIM

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

DHCR24 NM_014762.3 100% Desmosterolosis OMIM

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

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

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

DIS3L2 NM_152383.4 100% Perlman syndrome OMIM

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

DLAT NM_001931.4 99% Pyruvate dehydrogenase E2 deﬁciency OMIM

DLD NM_000108.4 100% Dihydrolipoamide dehydrogenase deﬁciency OMIM

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

DMD NM_004006.2 99% Duchenne muscular dystrophy OMIM

DMPK NM_004409.4 100% Myotonic dystrophy 1 OMIM

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

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

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

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

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

DPAGT1 NM_001382.3 100% Myasthenic syndrome, congenital, 13, with tubular aggregates OMIM

Congenital disorder of glycosylation, type Ij OMIM

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DPM1 NM_003859.1 100% Congenital disorder of glycosylation, type Ie OMIM

DYM NM_017653.3 100% Smith-McCort dysplasia OMIM

Dyggve-Melchior-Clausen disease OMIM

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

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

EBP NM_006579.2 100% MEND syndrome OMIM

Chondrodysplasia punctata, X-linked dominant OMIM EFTUD2 NM_004247.3 99% Mandibulofacial dysostosis, Guion-Almeida type OMIM

EHMT1 NM_024757.4 98% Kleefstra syndrome OMIM

EIF2AK3 NM_004836.5 99% Wolcott-Rallison syndrome OMIM

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

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

ELP2 NM_001242875.1 99% Intellectual disability, spastic diplegia OMIM

EMX2 NM_004098.3 99% Schizencephaly OMIM

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

ERCC1 NM_202001.2 100% Cerebrooculofacioskeletal syndrome 4 OMIM

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

ERCC4 NM_005236.2 99% Fanconi anemia, complementation group Q OMIM

?XFE progeroid syndrome OMIM

Xeroderma pigmentosum, type F/Cockayne syndrome OMIM ERCC5 NM_000123.3 99% Xeroderma pigmentosum, group G/Cockayne syndrome OMIM

Cerebrooculofacioskeletal syndrome 3 OMIM

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ERCC6 NM_000124.3 100% Cockayne syndrome, type B OMIM

Cerebrooculofacioskeletal syndrome 1 OMIM De Sanctis-Cacchione syndrome OMIM ERCC8 NM_000082.3 100% Cockayne syndrome, type A OMIM

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

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

ETFA NM_000126.3 100% Glutaric acidemia IIA OMIM

ETFB NM_001985.2 100% Glutaric acidemia IIB OMIM

ETFDH NM_004453.3 100% Glutaric acidemia IIC OMIM

ETHE1 NM_014297.3 100% Ethylmalonic encephalopathy OMIM

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

EVC2 NM_147127.4 100% Ellis-van Creveld syndrome OMIM

EXOSC3 NM_016042.3 100% Pontocerebellar hypoplasia, type 1B OMIM

EZH2 NM_004456.4 94% Weaver syndrome OMIM

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

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

FAM20C NM_020223.3 99% Raine syndrome OMIM

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

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

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

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

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

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

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

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

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

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

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

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

FGFR1 NM_023110.2 100% Hartsﬁeld syndrome OMIM Pfeiffer syndrome OMIM

FGFR2 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 NM_000142.4 96% Achondroplasia OMIM SADDAN OMIM

Muenke syndrome OMIM FH NM_000143.3 99% Fumarase deﬁciency OMIM

FIG4 NM_014845.5 100% Yunis-Varon syndrome OMIM

Charcot-Marie-Tooth disease, type 4J OMIM

FKRP 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 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

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FLNA 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 NM_017791.2 91% Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome OMIM

FMR1 NM_002024.5 99% Fragile X syndrome OMIM

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

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

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

FOXRED1 NM_017547.3 100% Mitochondrial complex I deﬁciency OMIM

Leigh syndrome due to mitochondrial complex I deﬁciency OMIM FRAS1 NM_025074.6 99% Fraser syndrome OMIM

FREM2 NM_207361.5 99% Fraser syndrome OMIM

FTCD NM_006657.2 94% Glutamate formiminotransferase deﬁciency OMIM

FTL NM_000146.3 100% L-ferritin deﬁciency, dominant and recessive OMIM Neurodegeneration with brain iron accumulation 3 OMIM FTO NM_001080432.2 95% Growth retardation, developmental delay, facial dysmorphism

OMIM

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

FUCA1 NM_000147.4 100% Fucosidosis OMIM

GAA NM_000152.3 100% Glycogen storage disease II OMIM

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

GABRB3 NM_000814.5 100%OMIM PubMed

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

GALC NM_000153.3 99% Krabbe disease OMIM

GALE NM_000403.3 100% Galactose epimerase deﬁciency OMIM

GALT NM_000155.3 100% Galactosemia OMIM

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

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

GBA 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 GCDH NM_000159.3 100% Glutaricaciduria, type I OMIM

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

GCSH NM_004483.4 95% Glycine encephalopathy OMIM

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

GFAP NM_002055.4 99% Alexander disease OMIM

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

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

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

GJC2 NM_020435.3 77% Spastic paraplegia 44, autosomal recessive OMIM Leukodystrophy, hypomyelinating, 2 OMIM GK NM_000167.5 100% Glycerol kinase deﬁciency OMIM

(18)

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

GLI2 NM_005270.4 94% Holoprosencephaly-9 OMIM Culler-Jones syndrome OMIM GLI3 NM_000168.5 99% Pallister-Hall syndrome OMIM

Greig cephalopolysyndactyly syndrome OMIM GLUD1 NM_005271.3 100% Hyperinsulinism-hyperammonemia syndrome OMIM

GLUL NM_002065.6 100% Glutamine deﬁciency, congenital OMIM

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

GNAS NM_000516.4 99% Pseudopseudohypoparathyroidism OMIM Pseudohypoparathyroidism Ic OMIM

GNPAT NM_014236.3 99% Rhizomelic chondrodysplasia punctata, type 2 OMIM

GNPTAB NM_024312.4 99% Mucolipidosis III alpha/beta OMIM Mucolipidosis II alpha/beta OMIM GNPTG NM_032520.4 98% Mucolipidosis III gamma OMIM

GNS NM_002076.3 100% Mucopolysaccharidosis type IIID OMIM

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

GPR56 NM_005682.6 100% Polymicrogyria, bilateral perisylvian OMIM Polymicrogyria, bilateral frontoparietal OMIM GPSM2 NM_013296.4 99% Chudley-McCullough syndrome OMIM

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

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

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

(19)

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

GRIN2B NM_000834.3 98% Mental retardation, autosomal dominant 6 OMIM Epileptic encephalopathy, early infantile, 27 OMIM GRM1 NM_001278066.1 100% Spinocerebellar ataxia, autosomal recessive 13 OMIM

GTF2H5 NM_207118.2 100% Trichothiodystrophy 3, photosensitive OMIM

GUSB NM_000181.3 100% Mucopolysaccharidosis VII OMIM

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

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

HCN1 NM_021072.3 98% Epileptic encephalopathy, early infantile, 24 OMIM

HDAC4 NM_006037.3 100% chromosome 2q37 deletion syndrome OMIM

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

HESX1 NM_003865.2 100% Growth hormone deﬁciency with pituitary anomalies OMIM Septooptic dysplasia OMIM

Pituitary hormone deﬁciency, combined, 5 OMIM HEXA NM_000520.4 100% Tay-Sachs disease OMIM

GM2-gangliosidosis, several forms OMIM

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

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

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

HLCS NM_000411.6 100% Holocarboxylase synthetase deﬁciency OMIM

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

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

(20)

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

HPD NM_002150.2 100% Tyrosinemia, type III OMIM

HPRT1 NM_000194.2 99% Lesch-Nyhan syndrome OMIM

HRAS NM_005343.2 100% Costello syndrome OMIM

HSD17B10 NM_004493.2 100% ?Mental retardation, X-linked syndromic 10 OMIM

17-beta-hydroxysteroid dehydrogenase X deﬁciency OMIM HSD17B4 NM_000414.3 100% Perrault syndrome 1 OMIM

D-bifunctional protein deﬁciency OMIM HSPD1 NM_002156.4 99% Leukodystrophy, hypomyelinating, 4 OMIM

HSPG2 NM_005529.6 99% Schwartz-Jampel syndrome, type 1 OMIM

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

HYLS1 NM_145014.2 100% Hydrolethalus syndrome OMIM

IDS NM_000202.6 96% Mucopolysaccharidosis II OMIM

IDUA NM_000203.4 99% Mucopolysaccharidosis Ih OMIM

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

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

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

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

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

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

(21)

INPP5E NM_019892.4 93% Mental retardation, truncal obesity, retinal dystrophy, and micropenis OMIM

IQSEC2 NM_001111125.2 89% Mental retardation, X-linked 1 OMIM

IRX5 NM_005853.5 99% Hamamy syndrome OMIM

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

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

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

ITPR1 NM_002222.5 99% Spinocerebellar ataxia 29, congenital nonprogressive OMIM

IVD NM_002225.3 100% Isovaleric acidemia OMIM

JAG1 NM_000214.2 97% Alagille syndrome OMIM

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

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

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

KAT6B NM_012330.3 99% SBBYSS syndrome OMIM Genitopatellar syndrome OMIM KCNJ10 NM_002241.4 100% SESAME syndrome OMIM

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

KCNQ2 NM_172107.2 99% Seizures, benign neonatal, 1 OMIM Myokymia OMIM

Epileptic encephalopathy, early infantile, 7 OMIM

KCTD7 NM_153033.4 99% Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM

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

(22)

KDM6A NM_021140.3 99% Kabuki syndrome 2 OMIM

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

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

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

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

KIF1A NM_004321.6 99% Spastic paraplegia 30, autosomal recessive OMIM Neuropathy, hereditary sensory, type IIC OMIM Mental retardation, autosomal dominant 9 OMIM KIF7 NM_198525.2 94% Joubert syndrome 12 OMIM

Acrocallosal syndrome OMIM

KIRREL3 NM_032531.3 100% Mental retardation, autosomal dominant 4 OMIM

KMT2D NM_003482.3 95% Kabuki syndrome 1 OMIM

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

L1CAM 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 NM_024884.2 99% L-2-hydroxyglutaric aciduria OMIM

LAMA1 NM_005559.3 99% Poretti-Boltshauser syndrome OMIM

LAMA2 NM_000426.3 99% Muscular dystrophy, congenital merosin-deﬁcient OMIM

Muscular dystrophy, congenital, due to partial LAMA2 deﬁciency OMIM

LAMB1 NM_002291.2 100% Lissencephaly 5 OMIM

LAMC3 NM_006059.3 99% Cortical malformations, occipital OMIM

LAMP2 NM_002294.2 100% Danon disease OMIM

(23)

LARGE NM_004737.4 100% Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 OMIM

LHX3 NM_014564.3 95% Pituitary hormone deﬁciency, combined, 3 OMIM

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

LIG4 NM_002312.3 100% LIG4 syndrome OMIM

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

LMBRD1 NM_018368.3 100% Methylmalonic aciduria and homocystinuria, cblF type OMIM

LRP2 NM_004525.2 99% Donnai-Barrow syndrome OMIM

LRP5 NM_002335.3 97% Osteoporosis-pseudoglioma syndrome OMIM

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

LYST NM_000081.3 99% Chediak-Higashi syndrome OMIM

MAGEL2 NM_019066.4 88% Schaaf-Yang syndrome OMIM

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

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

MANBA NM_005908.3 100% Mannosidosis, beta OMIM

MAOA NM_000240.3 100% Brunner syndrome OMIM

MAP2K1 NM_002755.3 100% Cardiofaciocutaneous syndrome 3 OMIM

MAP2K2 NM_030662.3 97% Cardiofaciocutaneous syndrome 4 OMIM

MASP1 NM_139125.3 100% 3MC syndrome 1 OMIM

(24)

MAT1A NM_000429.2 99% Methionine adenosyltransferase deﬁciency, autosomal recessive OMIM

Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deﬁciency OMIM MBD5 NM_018328.4 99% Mental retardation, autosomal dominant 1 OMIM

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

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

MCOLN1 NM_020533.2 99% Mucolipidosis IV OMIM

MCPH1 NM_024596.3 100% Microcephaly 1, primary, autosomal recessive OMIM

MECP2 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 NM_005120.2 99% Lujan-Fryns syndrome OMIM

Opitz-Kaveggia syndrome OMIM Ohdo syndrome, X-linked OMIM

MED17 NM_004268.4 99% Microcephaly, postnatal progressive, with seizures and brain atrophy OMIM

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

MEF2C NM_002397.4 100% Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations OMIM

Chromosome 5q14.3 deletion syndrome OMIM

MEGF10 NM_032446.2 100% Myopathy, areﬂexia, respiratory distress, and dysphagia, early-onset OMIM

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

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

MGP NM_000900.3 100% Keutel syndrome OMIM

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

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

(25)

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

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

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

MMAA NM_172250.2 99% Methylmalonic aciduria, vitamin B12-responsive OMIM

MMAB NM_052845.3 100% Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type OMIM MMACHC NM_015506.2 95% Methylmalonic aciduria and homocystinuria, cblC type OMIM

MMADHC 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 NM_005943.5 100% Molybdenum cofactor deﬁciency A OMIM

MOCS2 NM_176806.3 100% Molybdenum cofactor deﬁciency B OMIM

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

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

MPLKIP NM_138701.3 100% Trichothiodystrophy 4, nonphotosensitive OMIM

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

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

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

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

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

MTRR NM_002454.2 100% Homocystinuria-megaloblastic anemia, cbl E type OMIM

(26)

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

MYCN NM_005378.5 78% Feingold syndrome OMIM

MYH3 NM_002470.3 100% Arthrogryposis, distal, type 2A OMIM

MYO5A NM_000259.3 99% Griscelli syndrome, type 1 OMIM

NAA10 NM_003491.3 98% Ogden syndrome OMIM

?Microphthalmia, syndromic 1 OMIM NAGA NM_000262.2 100% Schindler disease, type I OMIM

Kanzaki disease OMIM

Schindler disease, type III OMIM

NAGLU NM_000263.3 90% Mucopolysaccharidosis type IIIB (Sanﬁlippo B) OMIM

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

NBN NM_002485.4 100% Nijmegen breakage syndrome OMIM

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

?Microhydranencephaly OMIM NDP NM_000266.3 100% Norrie disease OMIM

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

NDUFA1 NM_004541.3 100% Mitochondrial complex I deﬁciency OMIM

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

NDUFS1 NM_005006.6 100% Mitochondrial complex I deﬁciency OMIM

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

NDUFS7 NM_024407.4 100% Leigh syndrome OMIM

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

(27)

NDUFV1 NM_007103.3 99% Mitochondrial complex I deﬁciency OMIM

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

NEU1 NM_000434.3 100% Sialidosis, type II OMIM Sialidosis, type I OMIM NF1 NM_000267.3 99% Watson syndrome OMIM

Neuroﬁbromatosis-Noonan syndrome OMIM Neuroﬁbromatosis, type 1 OMIM

NFIX NM_002501.3 97% Sotos syndrome 2 OMIM

Marshall-Smith syndrome OMIM

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

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

NHS NM_198270.3 98% Nance-Horan syndrome OMIM

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

NKX2-1 NM_001079668.2 97% Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Learning difﬁculties mental retardation OMIM PubMed

NOP10 NM_018648.3 100% Dyskeratosis congenita, autosomal recessive 1 OMIM

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

NPC1 NM_000271.4 99% Niemann-Pick disease, type D OMIM Niemann-Pick disease, type C1 OMIM NPC2 NM_006432.3 100% Niemann-pick disease, type C2 OMIM

NPHP1 NM_000272.3 99% Senior-Loken syndrome-1 OMIM Nephronophthisis 1, juvenile OMIM Joubert syndrome 4 OMIM

NPHP3 NM_153240.4 99% Renal-hepatic-pancreatic dysplasia 1 OMIM

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

NRAS NM_002524.4 98% Noonan syndrome 6 OMIM

(28)

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

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

NSDHL NM_015922.2 100% CK syndrome OMIM CHILD syndrome OMIM

NSUN2 NM_017755.5 100% Mental retardation, autosomal recessive 5 OMIM

NUBPL NM_025152.2 99% Mitochondrial complex I deﬁciency OMIM

NUP62 NM_001193357.1 85% Striatonigral degeneration, infantile OMIM

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

OFD1 NM_003611.2 99% Simpson-Golabi-Behmel syndrome, type 2 OMIM Orofaciodigital syndrome I OMIM

OPHN1 NM_002547.2 98% Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance OMIM

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

OTC NM_000531.5 100% Ornithine transcarbamylase deﬁciency OMIM

OTX2 NM_001270524.1 100% Retinal dystrophy, early-onset, with or without pituitary dysfunction OMIM

Microphthalmia, syndromic 5 OMIM PAFAH1B1 NM_000430.3 100% Lissencephaly 1 OMIM

Subcortical laminar heterotopia OMIM PAH NM_000277.1 100% Phenylketonuria OMIM

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

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

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

PC NM_000920.3 100% Thrombophilia due to protein C deﬁciency, autosomal recessive OMIM

Pyruvate carboxylase deﬁciency OMIM

(29)

PCBD1 NM_000281.3 97% Hyperphenylalaninemia, BH4-deﬁcient, D OMIM

PCCA NM_000282.3 97% Propionicacidemia OMIM

PCCB NM_000532.4 100% Propionicacidemia OMIM

PCDH19 NM_001184880.1 100% Epileptic encephalopathy, early infantile, 9 OMIM

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

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

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

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

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

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

PEPD NM_000285.3 99% Prolidase deﬁciency OMIM

PEX1 NM_000466.2 99% Heimler syndrome 1 OMIM

Peroxisome biogenesis disorder 1B (NALD/IRD) OMIM Peroxisome biogenesis disorder 1A (Zellweger) OMIM PEX10 NM_153818.1 96% Peroxisome biogenesis disorder 6B OMIM

Peroxisome biogenesis disorder 6A (Zellweger) OMIM PEX12 NM_000286.2 100% Peroxisome biogenesis disorder 3B OMIM

Peroxisome biogenesis disorder 11A (Zellweger) OMIM PEX14 NM_004565.2 100% Peroxisome biogenesis disorder 13A (Zellweger) OMIM

PEX16 NM_004813.2 100% Peroxisome biogenesis disorder 8B OMIM

Peroxisome biogenesis disorder 8A, (Zellweger) OMIM PEX19 NM_002857.3 100% Peroxisome biogenesis disorder 12A (Zellweger) OMIM

Peroxisome biogenesis disorder 5A (Zellweger) OMIM

(30)

Peroxisome biogenesis disorder 7A (Zellweger) OMIM PEX3 NM_003630.2 100% Peroxisome biogenesis disorder 10A (Zellweger) OMIM

PEX5 NM_001131025.1 100% Rhizomelic chondrodysplasia punctata, type 5 OMIM Peroxisome biogenesis disorder 2B OMIM

Peroxisome biogenesis disorder 4A (Zellweger) OMIM PEX7 NM_000288.3 100% Rhizomelic chondrodysplasia punctata, type 1 OMIM

Peroxisome biogenesis disorder 9B OMIM PGK1 NM_000291.3 99% Phosphoglycerate kinase 1 deﬁciency OMIM

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

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

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

PHIP NM_017934.5 99% PHIP-associated mental retardation

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

PIGL NM_004278.3 100% CHIME syndrome OMIM

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

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

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

PIK3CA NM_006218.2 95% Cowden syndrome 5 OMIM

Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic OMIM

PIK3R2 NM_005027.3 93% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 OMIM

PLA2G6 NM_003560.2 99% Infantile neuroaxonal dystrophy 1 OMIM

Neurodegeneration with brain iron accumulation 2B OMIM

(31)

PLCB1 NM_015192.3 100% Epileptic encephalopathy, early infantile, 12 OMIM

PLOD3 NM_001084.4 96% Lysyl hydroxylase 3 deﬁciency OMIM

PLP1 NM_000533.4 99% Spastic paraplegia 2, X-linked OMIM Pelizaeus-Merzbacher disease OMIM

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

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

POGZ NM_015100.3 100% White-Sutton syndrome OMIM

POLR3A NM_007055.3 99% Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM

POLR3B NM_018082.5 100% Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM

POMGNT1 NM_017739.3 100% Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 OMIM

POMGNT2 NM_032806.5 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 OMIM

POMT1 NM_007171.3 100% Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 OMIM

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 OMIM

POMT2 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 NM_203475.2 100% Focal dermal hypoplasia OMIM

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

PPP2R1A NM_014225.5 100% Mental retardation, autosomal dominant 36 OMIM

PPT1 NM_000310.3 100% Ceroid lipofuscinosis, neuronal, 1 OMIM

(32)

PQBP1 NM_005710.2 100% Renpenning syndrome OMIM

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

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

PRPS1 NM_002764.3 100% Arts syndrome OMIM

Phosphoribosylpyrophosphate synthetase superactivity OMIM PRRX1 NM_022716.3 100% Agnathia-otocephaly complex OMIM

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

PSAP 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 NM_058179.3 100% Neu-Laxova syndrome 2 OMIM

?Phosphoserine aminotransferase deﬁciency OMIM PSPH NM_004577.3 100% Phosphoserine phosphatase deﬁciency OMIM

PTCH1 NM_000264.3 98% Holoprosencephaly-7 OMIM

PTEN 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 NM_178161.2 85% Pancreatic and cerebellar agenesis OMIM

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

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

PYCR1 NM_006907.3 100% Cutis laxa, autosomal recessive, type IIIB OMIM Cutis laxa, autosomal recessive, type IIB OMIM QDPR NM_000320.2 100% Hyperphenylalaninemia, BH4-deﬁcient, C OMIM

RAB18 NM_021252.4 99% Warburg micro syndrome 3 OMIM

(33)

RAB23 NM_183227.2 100% Carpenter syndrome OMIM

RAB39B NM_171998.3 97% Mental retardation, X-linked 72 OMIM

?Waisman syndrome OMIM RAB3GAP1 NM_012233.2 100% Warburg micro syndrome 1 OMIM

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

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

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

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

RAF1 NM_002880.3 99% LEOPARD syndrome 2 OMIM Noonan syndrome 5 OMIM RAI1 NM_030665.3 99% Smith-Magenis syndrome OMIM

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

OMIM

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

RBM10 NM_005676.4 100% TARP syndrome OMIM

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

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

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

RFT1 NM_052859.3 100% Congenital disorder of glycosylation, type In OMIM

RNASEH2A NM_006397.2 100% Aicardi-Goutieres syndrome 4 OMIM

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

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

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

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

RNF168 NM_152617.3 99% RIDDLE syndrome OMIM

ROGDI NM_024589.2 97% Kohlschutter-Tonz syndrome OMIM

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

RPGRIP1L NM_015272.2 99% Meckel syndrome 5 OMIM Joubert syndrome 7 OMIM COACH syndrome OMIM

RPS19 NM_001022.3 100% Diamond-Blackfan anemia 1 OMIM

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

RYR1 NM_000540.2 98% Neuromuscular disease, congenital, with uniform type 1 ﬁber OMIM Minicore myopathy with external ophthalmoplegia OMIM

Central core disease OMIM

SACS NM_014363.5 100% Spastic ataxia, Charlevoix-Saguenay type OMIM

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

SATB2 NM_015265.3 99% Glass syndrome OMIM

SBDS NM_016038.2 100% Shwachman-Diamond syndrome OMIM

SC5D NM_006918.4 100% Lathosterolosis OMIM

SCN1A NM_001165963.1 100% Epilepsy, generalized, with febrile seizures plus, type 2 OMIM Dravet syndrome OMIM

SCN1B NM_001037.4 93% Epilepsy, generalized, with febrile seizures plus, type 1 OMIM

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

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SCN8A NM_014191.3 99% Epileptic encephalopathy, early infantile, 13 OMIM

?Cognitive impairment with or without cerebellar ataxia OMIM SCO1 NM_004589.3 99% Mitochondrial complex IV deﬁciency OMIM

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

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

SDHA NM_004168.3 96% Mitochondrial respiratory chain complex II deﬁciency OMIM Leigh syndrome OMIM

SDHAF1 NM_001042631.2 99% Mitochondrial complex II deﬁciency OMIM

SETBP1 NM_015559.2 94% Schinzel-Giedion midface retraction syndrome OMIM Mental retardation, autosomal dominant 29 OMIM SGSH NM_000199.3 93% Mucopolysaccharidisis type IIIA (Sanﬁlippo A) OMIM

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

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

SIL1 NM_022464.4 100% Marinesco-Sjogren syndrome OMIM

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

SKI NM_003036.3 96% Shprintzen-Goldberg syndrome OMIM

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

SLC16A2 NM_006517.4 99% Allan-Herndon-Dudley syndrome OMIM

SLC17A5 NM_012434.4 99% Sialic acid storage disorder, infantile OMIM Salla disease OMIM

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

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

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

SLC25A19 NM_021734.4 98% Microcephaly, Amish type OMIM

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

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

SLC2A1 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 NM_030777.3 100% Arterial tortuosity syndrome OMIM

SLC2A2 NM_000340.1 99% Fanconi-Bickel syndrome OMIM

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

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

SLC46A1 NM_080669.5 99% Folate malabsorption, hereditary OMIM

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

SLC5A5 NM_000453.2 99% Thyroid dyshormonogenesis 1 OMIM

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

SLC6A5 NM_004211.3 99% Hyperekplexia 3 OMIM

SLC6A8 NM_005629.3 91% Cerebral creatine deﬁciency syndrome 1 OMIM

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

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

SMAD4 NM_005359.5 81% Myhre syndrome OMIM

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SMARCA2 NM_003070.4 97% Nicolaides-Baraitser syndrome OMIM

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

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

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

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

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

SMOC1 NM_001034852.2 100% Microphthalmia with limb anomalies OMIM

SMPD1 NM_000543.4 99% Niemann-Pick disease, type B OMIM Niemann-Pick disease, type A OMIM SMS NM_004595.4 98% Smith-Magenis syndrome OMIM

Mental retardation, X-linked, Snyder-Robinson type OMIM SNAP29 NM_004782.3 100% Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar

keratoderma syndrome OMIM

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

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

SOS1 NM_005633.3 100% Noonan syndrome 4 OMIM

SOX10 NM_006941.3 98% Waardenburg syndrome, type 2E, with or without neurologic involvement OMIM

PCWH syndrome OMIM

Waardenburg syndrome, type 4C OMIM

SOX2 NM_003106.3 100% Optic nerve hypoplasia and abnormalities of the central nervous system OMIM

Microphthalmia, syndromic 3 OMIM

SOX3 NM_005634.2 89% Mental retardation, X-linked, with isolated growth hormone deﬁciency OMIM

SOX9 NM_000346.3 98% Campomelic dysplasia with autosomal sex reversal OMIM Campomelic dysplasia OMIM

Acampomelic campomelic dysplasia OMIM SPG11 NM_025137.3 99% Spastic paraplegia 11, autosomal recessive OMIM

Charcot-Marie-Tooth disease, axonal, type 2X OMIM

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

SPRED1 NM_152594.2 95% Legius syndrome OMIM

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

SRCAP NM_006662.2 99% Floating-Harbor syndrome OMIM

SRD5A3 NM_024592.4 100% Kahrizi syndrome OMIM

Congenital disorder of glycosylation, type Iq OMIM

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

ST3GAL3 NM_006279.3 100% Mental retardation, autosomal recessive 12 OMIM Epileptic encephalopathy, early infantile, 15 OMIM ST3GAL5 NM_003896.3 94% Amish infantile epilepsy syndrome OMIM

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

STRA6 NM_022369.3 100% Microphthalmia, syndromic 9 OMIM

Microphthalmia, isolated, with coloboma 8 OMIM STXBP1 NM_003165.3 100% Epileptic encephalopathy, early infantile, 4 OMIM

SUCLG1 NM_003849.3 100% Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) OMIM

SUMF1 NM_182760.3 100% Multiple sulfatase deﬁciency OMIM

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

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

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

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

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

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TACO1 NM_016360.3 96% Mitochondrial complex IV deﬁciency OMIM

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

TAT NM_000353.2 100% Tyrosinemia, type II OMIM

TAZ NM_000116.4 100% Barth syndrome OMIM

TBC1D24 NM_001199107.1 100% Myoclonic epilepsy, infantile, familial OMIM Epileptic encephalopathy, early infantile, 16 OMIM DOOR syndrome OMIM

TBCE NM_003193.4 99% Hypoparathyroidism-retardation-dysmorphism syndrome OMIM Kenny-Caffey syndrome, type 1 OMIM

TCF4 NM_001083962.1 100% Pitt-Hopkins syndrome OMIM

TCTN1 NM_001082538.2 100% Joubert syndrome 13 OMIM

TCTN2 NM_024809.4 100% Joubert syndrome 24 OMIM

?Meckel syndrome 8 OMIM

TFAP2A NM_003220.2 98% Branchiooculofacial syndrome OMIM

TFAP2B NM_003221.3 99% Char syndrome OMIM

TGFBR1 NM_004612.2 93% Loeys-Dietz syndrome 1 OMIM

TGFBR2 NM_003242.5 99% Loeys-Dietz syndrome 2 OMIM

TGIF1 NM_173208.2 100% Holoprosencephaly-4 OMIM

TH NM_199292.2 99% Segawa syndrome, recessive OMIM

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

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

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

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

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

TMEM216 NM_001173990.2 100% Meckel syndrome 2 OMIM Joubert syndrome 2 OMIM TMEM237 NM_001044385.2 100% Joubert syndrome 14 OMIM

TMEM67 NM_153704.5 100% Nephronophthisis 11 OMIM Meckel syndrome 3 OMIM Joubert syndrome 6 OMIM COACH syndrome OMIM

TMEM70 NM_017866.5 100% Mitochondrial complex V (ATP synthase) deﬁciency, nuclear type 2 OMIM

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

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

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

TSC1 NM_000368.4 99% Tuberous sclerosis-1 OMIM

Focal cortical dysplasia, Taylor balloon cell type OMIM TSC2 NM_000548.3 100% Lymphangioleiomyomatosis, somatic OMIM

Tuberous sclerosis-2 OMIM

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

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

TSEN54 NM_207346.2 96% Pontocerebellar hypoplasia type 2A OMIM

?Pontocerebellar hypoplasia type 5 OMIM Pontocerebellar hypoplasia type 4 OMIM TSPAN7 NM_004615.3 100% Mental retardation, X-linked 58 OMIM

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

TTC37 NM_014639.3 99% Trichohepatoenteric syndrome 1 OMIM

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

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

TUBA1A NM_006009.3 100% Lissencephaly 3 OMIM

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

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

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

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

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

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

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

TWIST1 NM_000474.3 77% Craniosynostosis, type 1 OMIM

Saethre-Chotzen syndrome with eyelid anomalies OMIM Saethre-Chotzen syndrome OMIM

UBE2A NM_003336.3 99% Mental retardation, X-linked syndromic, Nascimento-type OMIM

UBE3A NM_130838.1 100% Angelman syndrome OMIM

UBR1 NM_174916.2 100% Johanson-Blizzard syndrome OMIM

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

UMPS NM_000373.3 99% Orotic aciduria OMIM

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

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

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

UROC1 NM_144639.2 100% ?Urocanase deﬁciency OMIM

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

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

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

VPS13B NM_017890.4 99% Cohen syndrome OMIM

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

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

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

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

WDR35 NM_001006657.1 99% Cranioectodermal dysplasia 2 OMIM

Short-rib thoracic dysplasia 7 with or without polydactyly OMIM WDR45 NM_007075.3 100% Neurodegeneration with brain iron accululation 5 OMIM

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

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

WNT4 NM_030761.4 96% SERKAL syndrome OMIM

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

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

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

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

YAP1 NM_001130145.2 100% Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation OMIM

Coloboma, ocular OMIM

ZBTB16 NM_006006.4 99% Skeletal defects, genital hypoplasia, and mental retardation OMIM

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

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

ZEB2 NM_014795.3 100% Mowat-Wilson syndrome OMIM

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

ZIC2 NM_007129.3 84% Holoprosencephaly-5 OMIM

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