Psykisk utviklingshemming

Genpanel, versjon v01

Tabellen er sortert på gennavn (HGNC gensymbol) Navn på gen er iht. HGNC Kolonnen >x10 viser andel av genet som vi forventer blir lest med tilfredstillende kvalitet flere enn 10 ganger under sekvensering

Gen Transkript >10x Fenotype AAAS NM_015665.5 100% Achalasia-addisonianism-alacrimia syndrome OMIM

AASS NM_005763.3 100% Hyperlysinemia OMIM Saccharopinuria OMIM

ABCC9 NM_005691.3 100% Hypertrichotic osteochondrodysplasia OMIM

ABCD1 NM_000033.3 76% Adrenoleukodystrophy OMIM

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

ABHD5 NM_016006.4 100% 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_000019.3 100% Alpha-methylacetoacetic aciduria OMIM

ACO2 NM_001098.2 97% 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

ACTA2 NM_001613.2 100% Moyamoya disease 5 OMIM Multisystemic smooth muscle dysfunction syndrome OMIM Gen Transkript >10x Fenotype ACTB NM_001101.3 100% ?Dystonia, juvenile-onset OMIM Baraitser-Winter syndrome 1 OMIM

ACTG1 NM_001614.3 100% Baraitser-Winter syndrome 2 OMIM Deafness, autosomal dominant 20/26 OMIM

ACVR1 NM_001105.4 100% Fibrodysplasia ossificans progressiva OMIM

ACVR2B NM_001106.3 100% Heterotaxy, visceral, 4, autosomal OMIM

ACY1 NM_000666.2 100% Aminoacylase 1 deficiency OMIM

ADAR NM_001111.4 100% Aicardi-Goutieres syndrome 6 OMIM Dyschromatosis symmetrica hereditaria 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_002025.3 100% Mental retardation, X-linked, FRAXE type OMIM

AFG3L2 NM_006796.2 98% Ataxia, spastic, 5, autosomal recessive OMIM Spinocerebellar ataxia 28 OMIM

AGA NM_000027.3 100% Aspartylglucosaminuria OMIM

AGK NM_018238.3 100% Sengers syndrome OMIM

AGL NM_000642.2 100% Glycogen storage disease IIIa OMIM Glycogen storage disease IIIb OMIM

AGXT NM_000030.2 100% Hyperoxaluria, primary, type 1 OMIM

AHDC1 NM_001029882.3 99% Xia-Gibbs syndrome OMIM Gen Transkript >10x Fenotype AIFM1 NM_004208.3 100% Combined oxidative phosphorylation deficiency 6 OMIM Cowchock syndrome OMIM Deafness, X-linked 5 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 dominant 3 OMIM Cutis laxa, autosomal recessive, type IIIA OMIM Spastic paraplegia 9A, autosomal dominant OMIM Spastic paraplegia 9B, autosomal recessive OMIM ALDH3A2 NM_000382.2 100% Sjogren-Larsson syndrome OMIM

ALDH4A1 NM_003748.3 100% Hyperprolinemia, type II OMIM

ALDH5A1 NM_001080.3 99% Succinic semialdehyde dehydrogenase deficiency OMIM

ALDH7A1 NM_001182.4 99% 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 52% 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% Epileptic encephalopathy, early infantile, 36 OMIM

ALG2 NM_033087.3 100% ?Congenital disorder of glycosylation, type Ii OMIM Myasthenic syndrome, congenital, 14, with tubular aggregates OMIM ALG3 NM_005787.5 100% Congenital disorder of glycosylation, type Id OMIM

ALG6 NM_013339.3 99% Congenital disorder of glycosylation, type Ic OMIM Gen Transkript >10x Fenotype ALG8 NM_024079.4 100% Congenital disorder of glycosylation, type Ih OMIM

ALG9 NM_001077691.1 100% Congenital disorder of glycosylation, type Il OMIM Gillessen-Kaesbach-Nishimura syndrome OMIM

ALMS1 NM_015120.4 100% Alstrom syndrome OMIM

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

ALX3 NM_006492.2 94% Frontonasal dysplasia 1 OMIM

ALX4 NM_021926.3 100% Frontonasal dysplasia 2 OMIM Parietal foramina 2 OMIM

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

AMPD2 NM_001257360.1 100% Pontocerebellar hypoplasia, type 9 OMIM

AMT NM_000481.3 100% Glycine encephalopathy OMIM

ANKRD11 NM_013275.5 98% KBG syndrome OMIM

AP1S2 NM_003916.4 91% Mental retardation, X-linked syndromic 5 OMIM

AP4B1 NM_006594.3 100% Spastic paraplegia 47, autosomal recessive OMIM

AP4E1 NM_007347.4 100% Spastic paraplegia 51, autosomal recessive OMIM

AP4M1 NM_004722.3 99% Spastic paraplegia 50, autosomal recessive OMIM

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

APOPT1 NM_032374.4 100% Mitochondrial complex IV deficiency OMIM

APTX NM_175073.2 94% Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM Gen Transkript >10x Fenotype ARFGEF2 NM_006420.2 100% Periventricular heterotopia with microcephaly OMIM

ARG1 NM_000045.3 100% Argininemia OMIM

ARHGAP31 NM_020754.3 99% Adams-Oliver syndrome 1 OMIM

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

ARHGEF9 NM_015185.2 100% Epileptic encephalopathy, early infantile, 8 OMIM

ARID1A NM_006015.4 99% Coffin-Siris syndrome 2 OMIM

ARID1B NM_020732.3 99% Coffin-Siris syndrome 1 OMIM

ARL6 NM_177976.2 100% Bardet-Biedl syndrome 3 OMIM {Bardet-Biedl syndrome 1, modifier of} OMIM

ARSA NM_000487.5 100% Metachromatic leukodystrophy OMIM

ARSE NM_000047.2 99% Chondrodysplasia punctata, X-linked recessive OMIM

ARX NM_139058.2 89% Epileptic encephalopathy, early infantile, 1 OMIM Hydranencephaly with abnormal genitalia OMIM Lissencephaly, X-linked 2 OMIM Mental retardation, X-linked 29 and others OMIM Partington syndrome OMIM Proud syndrome OMIM ASAH1 NM_177924.3 100% Farber lipogranulomatosis OMIM Spinal muscular atrophy with progressive myoclonic epilepsy OMIM

ASL NM_000048.3 100% Argininosuccinic aciduria OMIM

ASPA NM_000049.2 100% Canavan disease OMIM

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

ASS1 NM_000050.4 98% Citrullinemia OMIM

ASXL1 NM_015338.5 100% Bohring-Opitz syndrome OMIM Gen Transkript >10x Fenotype ASXL3 NM_030632.1 100% Bainbridge-Ropers syndrome OMIM

ATIC NM_004044.6 100% AICA-ribosiduria due to ATIC deficiency OMIM

ATM NM_000051.3 100% Ataxia-telangiectasia OMIM

ATP13A2 NM_022089.3 100% ?Ceroid lipofuscinosis, neuronal, 12 OMIM Kufor-Rakeb syndrome OMIM

ATP1A3 NM_152296.4 100% Alternating hemiplegia of childhood 2 OMIM CAPOS syndrome OMIM Dystonia-12 OMIM ATP6AP2 NM_005765.2 99% ?Mental retardation, X-linked, syndromic, Hedera type OMIM ?Parkinsonism with spasticity, X-linked OMIM

ATP7A NM_000052.6 100% Menkes disease OMIM Occipital horn syndrome OMIM Spinal muscular atrophy, distal, X-linked 3 OMIM ATR NM_001184.3 99% GAPO syndrome OMIM Seckel syndrome 1 OMIM

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

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

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

B3GALNT2 NM_152490.4 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 OMIM

B4GALT7 NM_007255.2 99% Ehlers-Danlos syndrome with short stature and limb anomalies OMIM

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

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

BBS12 NM_152618.2 100% Bardet-Biedl syndrome 12 OMIM

BBS2 NM_031885.3 100% Bardet-Biedl syndrome 2 OMIM Retinitis pigmentosa 74 OMIM

BBS4 NM_033028.4 100% Bardet-Biedl syndrome 4 OMIM Gen Transkript >10x Fenotype BBS5 NM_152384.2 100% Bardet-Biedl syndrome 5 OMIM

BBS7 NM_176824.2 100% Bardet-Biedl syndrome 7 OMIM

BBS9 NM_198428.2 100% Bardet-Biedl syndrome 9 OMIM

BCAP31 NM_001139441.1 98% Deafness, dystonia, and cerebral hypomyelination OMIM

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

BCKDHB NM_183050.2 99% Maple syrup urine disease, type Ib OMIM

BCOR NM_017745.5 99% Microphthalmia, syndromic 2 OMIM

BCS1L NM_004328.4 100% Bjornstad syndrome OMIM GRACILE syndrome OMIM Leigh syndrome OMIM Mitochondrial complex III deficiency, nuclear type 1 OMIM BICD2 NM_001003800.1 100% Spinal muscular atrophy, lower extremity-predominant, 2, AD OMIM

BIN1 NM_139343.2 100% Myopathy, centronuclear, autosomal recessive OMIM

BLM NM_000057.3 100% Bloom syndrome OMIM

BMP4 NM_001202.3 100% Microphthalmia, syndromic 6 OMIM

BMPER NM_133468.4 100% Diaphanospondylodysostosis OMIM

BOLA3 NM_212552.2 97% Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia OMIM

BRAF NM_004333.4 99% Cardiofaciocutaneous syndrome OMIM LEOPARD syndrome 3 OMIM Noonan syndrome 7 OMIM BRAT1 NM_152743.3 100% Rigidity and multifocal seizure syndrome, lethal neonatal OMIM

BRCA2 NM_000059.3 99% {Glioblastoma 3} OMIM

BRIP1 NM_032043.2 100% Fanconi anemia, complementation group J OMIM Gen Transkript >10x Fenotype BRWD3 NM_153252.4 99% Mental retardation, X-linked 93 OMIM

BSND NM_057176.2 100% Bartter syndrome, type 4a OMIM Sensorineural deafness with mild renal dysfunction OMIM

BTD NM_000060.3 100% Biotinidase deficiency OMIM

BUB1B NM_001211.5 100% Mosaic variegated aneuploidy syndrome 1 OMIM [Premature chromatid separation trait] OMIM

C12orf57 NM_138425.3 100% Temtamy syndrome OMIM

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

C2CD3 NM_015531.5 100% ?Orofaciodigital syndrome XIV OMIM

C5orf42 NM_023073.3 100% Joubert syndrome 17 OMIM Orofaciodigital syndrome VI OMIM

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

CA5A NM_001739.1 100% Hyperammonemia due to carbonic anhydrase VA deficiency OMIM

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

CACNA1C NM_000719.6 100% Timothy syndrome OMIM

CACNA1D NM_000720.3 100% Primary aldosteronism, seizures, and neurologic abnormalities OMIM

CAMTA1 NM_015215.3 100% Cerebellar ataxia, nonprogressive, with mental retardation OMIM

CASK NM_003688.3 100% FG syndrome 4 OMIM Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM Mental retardation, with or without nystagmus 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 Gen Transkript >10x Fenotype CC2D2A NM_001080522.2 100% COACH syndrome OMIM Joubert syndrome 9 OMIM Meckel syndrome 6 OMIM CCBE1 NM_133459.3 100% Hennekam lymphangiectasia-lymphedema syndrome 1 OMIM

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

CCDC78 NM_001031737.2 100% Myopathy, centronuclear, 4 OMIM

CCND2 NM_001759.3 100% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 OMIM

CD96 NM_198196.2 100% C syndrome OMIM

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

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

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 88% Beckwith-Wiedemann syndrome OMIM IMAGE syndrome OMIM

CDON NM_016952.4 100% Holoprosencephaly 11 OMIM

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

CEP135 NM_025009.4 99% ?Microcephaly 8, primary, autosomal recessive OMIM

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

CEP290 NM_025114.3 99% ?Bardet-Biedl syndrome 14 OMIM Joubert syndrome 5 OMIM Meckel syndrome 4 OMIM Senior-Loken syndrome 6 OMIM CEP41 NM_018718.2 100% Joubert syndrome 15 OMIM

CEP57 NM_014679.4 100% Mosaic variegated aneuploidy syndrome 2 OMIM Gen Transkript >10x Fenotype CEP63 NM_025180.3 100% ?Seckel syndrome 6 OMIM

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

CHD7 NM_017780.3 100% CHARGE syndrome OMIM

CHMP1A NM_002768.4 100% Pontocerebellar hypoplasia, type 8 OMIM

CHST14 NM_130468.3 99% Ehlers-Danlos syndrome, musculocontractural type 1 OMIM

CKAP2L NM_152515.4 100% Filippi syndrome OMIM

CLCN4 NM_001830.3 100% Mental retardation, X-linked 49/15 OMIM

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

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

CLN6 NM_017882.2 100% Ceroid lipofuscinosis, neuronal, 6 OMIM Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM

CLN8 NM_018941.3 100% Ceroid lipofuscinosis, neuronal, 8 OMIM Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM

CLP1 NM_006831.2 100% Pontocerebellar hypoplasia, type 10 OMIM

CLPP NM_006012.2 100% Perrault syndrome 3 OMIM

CNTNAP2 NM_014141.5 100% 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

COASY NM_025233.6 100% Neurodegeneration with brain iron accumulation 6 OMIM

COG1 NM_018714.2 100% Congenital disorder of glycosylation, type IIg OMIM

COG4 NM_015386.2 100% Congenital disorder of glycosylation, type IIj OMIM Gen Transkript >10x Fenotype COG5 NM_006348.3 100% Congenital disorder of glycosylation, type IIi OMIM

COG7 NM_153603.3 100% Congenital disorder of glycosylation, type IIe OMIM

COG8 NM_032382.4 100% Congenital disorder of glycosylation, type IIh OMIM

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

COL4A1 NM_001845.5 99% Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM Brain small vessel disease with or without ocular anomalies OMIM Porencephaly 1 OMIM COL4A2 NM_001846.2 100% Porencephaly 2 OMIM

COL4A3BP NM_001130105.1 100% Mental retardation, autosomal dominant 34 OMIM

COLEC11 NM_024027.4 100% 3MC syndrome 2 OMIM

COQ2 NM_015697.7 100% Coenzyme Q10 deficiency, primary, 1 OMIM {Multiple system atrophy, susceptibility to} OMIM

COQ9 NM_020312.3 100% Coenzyme Q10 deficiency, primary, 5 OMIM

COX10 NM_001303.3 100% Leigh syndrome due to mitochondrial COX4 deficiency OMIM Mitochondrial complex IV deficiency OMIM COX15 NM_004376.5 100% Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 OMIM Leigh syndrome due to cytochrome c oxidase deficiency OMIM COX7B NM_001866.2 84% Linear skin defects with multiple congenital anomalies 2 OMIM

CPS1 NM_001875.4 100% Carbamoylphosphate synthetase I deficiency OMIM

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

CRBN NM_016302.3 100% Mental retardation, autosomal recessive 2 OMIM

CREBBP NM_004380.2 100% Rubinstein-Taybi syndrome OMIM

CSPP1 NM_024790.6 100% Joubert syndrome 21 OMIM Gen Transkript >10x Fenotype 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

CTCF NM_006565.3 100% Mental retardation, autosomal dominant 21 OMIM

CTDP1 NM_004715.4 98% 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_001909.4 100% Ceroid lipofuscinosis, neuronal, 10 OMIM

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

CYB5R3 NM_000398.6 98% Methemoglobinemia, type I OMIM Methemoglobinemia, type II OMIM

CYC1 NM_001916.4 100% Mitochondrial complex III deficiency, nuclear type 6 OMIM

DAG1 NM_004393.5 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 OMIM Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 OMIM DARS NM_001349.3 100% Hypomyelination with brainstem and spinal cord involvement and leg spasticity OMIM

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

DBT NM_001918.3 100% Maple syrup urine disease, type II OMIM

DCAF17 NM_025000.3 100% Woodhouse-Sakati syndrome OMIM

DCHS1 NM_003737.3 99% Mitral valve prolapse 2 OMIM Van Maldergem syndrome 1 OMIM

DCX NM_178153.2 100% Lissencephaly, X-linked OMIM Subcortical laminal heteropia, X-linked OMIM

DDC NM_000790.3 99% Aromatic L-amino acid decarboxylase deficiency OMIM Gen Transkript >10x Fenotype DDHD2 NM_015214.2 100% Spastic paraplegia 54, autosomal recessive OMIM

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

DDX11 NM_030653.3 88% Warsaw breakage syndrome OMIM

DDX59 NM_001031725.4 100% Orofaciodigital syndrome V OMIM

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

DEPDC5 NM_001242896.1 100% Epilepsy, familial focal, with variable foci 1 OMIM

DHCR24 NM_014762.3 100% Desmosterolosis OMIM

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

DHFR NM_000791.3 99% Megaloblastic anemia due to dihydrofolate reductase deficiency OMIM

DHTKD1 NM_018706.6 100% 2-aminoadipic 2-oxoadipic aciduria OMIM ?Charcot-Marie-Tooth disease, axonal, type 2Q OMIM

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

DIS3L2 NM_152383.4 100% Perlman syndrome OMIM

DKC1 NM_001363.4 100% Dyskeratosis congenita, X-linked OMIM

DLAT NM_001931.4 100% Pyruvate dehydrogenase E2 deficiency OMIM

DLD NM_000108.4 100% Dihydrolipoamide dehydrogenase deficiency OMIM

DLG3 NM_021120.3 100% Mental retardation, X-linked 90 OMIM

DMD NM_004006.2 100% Becker muscular dystrophy OMIM Cardiomyopathy, dilated, 3B OMIM Duchenne muscular dystrophy OMIM DMPK NM_004409.4 100% Myotonic dystrophy 1 OMIM Gen Transkript >10x Fenotype DNA2 NM_001080449.2 100% ?Seckel syndrome 8 OMIM Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 OMIM DNM1 NM_004408.3 97% Epileptic encephalopathy, early infantile, 31 OMIM

DNMT3A NM_175629.2 99% Tatton-Brown-Rahman syndrome OMIM

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

DOCK6 NM_020812.3 100% Adams-Oliver syndrome 2 OMIM

DOCK7 NM_001272001.1 99% Epileptic encephalopathy, early infantile, 23 OMIM

DOLK NM_014908.3 100% Congenital disorder of glycosylation, type Im OMIM

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

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

DYNC1H1 NM_001376.4 100% Charcot-Marie-Tooth disease, axonal, type 20 OMIM Mental retardation, autosomal dominant 13 OMIM Spinal muscular atrophy, lower extremity-predominant 1, AD OMIM DYRK1A NM_001396.3 100% Mental retardation, autosomal dominant 7 OMIM

EBP NM_006579.2 99% Chondrodysplasia punctata, X-linked dominant OMIM MEND syndrome OMIM

EEF1A2 NM_001958.3 100% Epileptic encephalopathy, early infantile, 33 OMIM Mental retardation, autosomal dominant 38 OMIM

EFTUD2 NM_004247.3 100% Mandibulofacial dysostosis, Guion-Almeida type OMIM

EHMT1 NM_024757.4 99% Kleefstra syndrome OMIM

EIF2AK3 NM_004836.5 99% Wolcott-Rallison syndrome OMIM

ELAC2 NM_018127.6 100% Combined oxidative phosphorylation deficiency 17 OMIM Gen Transkript >10x Fenotype ELOVL4 NM_022726.3 100% ?Spinocerebellar ataxia 34 OMIM Ichthyosis, spastic quadriplegia, and mental retardation OMIM Stargardt disease 3 OMIM EMX2 NM_004098.3 100% Schizencephaly OMIM

EP300 NM_001429.3 100% Rubinstein-Taybi syndrome 2 OMIM

EPG5 NM_020964.2 99% Vici syndrome OMIM

ERCC1 NM_202001.2 100% Cerebrooculofacioskeletal syndrome 4 OMIM

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

ERCC4 NM_005236.2 100% Fanconi anemia, complementation group Q OMIM Xeroderma pigmentosum, group F OMIM Xeroderma pigmentosum, type F/Cockayne syndrome OMIM ERCC5 NM_000123.3 100% Cerebrooculofacioskeletal syndrome 3 OMIM Xeroderma pigmentosum, group G OMIM Xeroderma pigmentosum, group G/Cockayne syndrome OMIM ERCC6 NM_000124.3 100% Cerebrooculofacioskeletal syndrome 1 OMIM Cockayne syndrome, type B OMIM De Sanctis-Cacchione syndrome OMIM Premature ovarian failure 11 OMIM ERCC6L2 NM_001010895.2 100% Bone marrow failure syndrome 2 OMIM

ERCC8 NM_000082.3 100% Cockayne syndrome, type A OMIM

ERF NM_006494.3 100% Craniosynostosis 4 OMIM

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

ERMARD NM_018341.2 100% ?Periventricular nodular heterotopia 6 OMIM

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

ETFA NM_000126.3 100% Glutaric acidemia IIA OMIM

ETFB NM_001985.2 100% Glutaric acidemia IIB OMIM Gen Transkript >10x Fenotype ETFDH NM_004453.3 100% Glutaric acidemia IIC OMIM

ETHE1 NM_014297.3 100% Ethylmalonic encephalopathy OMIM

EVC NM_153717.2 97% Ellis-van Creveld syndrome OMIM Weyers acrodental dysostosis OMIM

EVC2 NM_147127.4 99% Ellis-van Creveld syndrome OMIM Weyers acrofacial dysostosis OMIM

EXOSC3 NM_016042.3 99% Pontocerebellar hypoplasia, type 1B OMIM

EZH2 NM_004456.4 100% Weaver syndrome OMIM

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

FAM134B NM_001034850.2 99% Neuropathy, hereditary sensory and autonomic, type IIB OMIM

FAM20C NM_020223.3 100% 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

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

FANCE NM_021922.2 98% Fanconi anemia, complementation group E OMIM

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

FANCG NM_004629.1 100% 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 Gen Transkript >10x Fenotype FAR1 NM_032228.5 99% Peroxisomal fatty acyl-CoA reductase 1 disorder OMIM

FAT4 NM_024582.4 100% Hennekam lymphangiectasia-lymphedema syndrome 2 OMIM Van Maldergem syndrome 2 OMIM

FBN1 NM_000138.4 100% Weill-Marchesani syndrome 2, dominant OMIM

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

FBXL4 NM_012160.4 100% Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM

FGD1 NM_004463.2 98% Aarskog-Scott syndrome OMIM Mental retardation, X-linked syndromic 16 OMIM

FGFR1 NM_023110.2 100% Hartsfield syndrome OMIM Hypogonadotropic hypogonadism 2 with or without anosmia OMIM Jackson-Weiss syndrome OMIM Osteoglophonic dysplasia OMIM Pfeiffer syndrome OMIM Trigonocephaly 1 OMIM FGFR2 NM_000141.4 100% Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM Apert syndrome OMIM Beare-Stevenson cutis gyrata syndrome OMIM Craniofacial-skeletal-dermatologic dysplasia OMIM Crouzon syndrome OMIM Jackson-Weiss syndrome OMIM LADD syndrome OMIM Pfeiffer syndrome OMIM Saethre-Chotzen syndrome OMIM Scaphocephaly, maxillary retrusion, and mental retardation OMIM FGFR3 NM_000142.4 100% Achondroplasia OMIM CATSHL syndrome OMIM Crouzon syndrome with acanthosis nigricans OMIM Hypochondroplasia OMIM LADD syndrome OMIM Muenke syndrome OMIM SADDAN OMIM Thanatophoric dysplasia, type I OMIM Thanatophoric dysplasia, type II OMIM FIG4 NM_014845.5 100% ?Polymicrogyria, bilateral temporooccipital OMIM Amyotrophic lateral sclerosis 11 OMIM Charcot-Marie-Tooth disease, type 4J OMIM Yunis-Varon syndrome OMIM FKRP NM_024301.4 100% 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 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 OMIM Gen Transkript >10x Fenotype FKTN NM_001079802.1 100% Cardiomyopathy, dilated, 1X OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 OMIM Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 OMIM Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 OMIM FLNA NM_001456.3 100% Congenital short bowel syndrome OMIM Frontometaphyseal dysplasia 1 OMIM Heterotopia, periventricular OMIM Melnick-Needles syndrome OMIM Otopalatodigital syndrome, type I OMIM Otopalatodigital syndrome, type II OMIM FLVCR2 NM_017791.2 100% Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome OMIM

FMR1 NM_002024.5 100% Fragile X syndrome OMIM Fragile X tremor/ataxia syndrome OMIM Premature ovarian failure 1 OMIM FOLR1 NM_016725.2 100% Neurodegeneration due to cerebral folate transport deficiency OMIM

FOXG1 NM_005249.4 97% 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% Leigh syndrome due to mitochondrial complex I deficiency OMIM Mitochondrial complex I deficiency OMIM

FRAS1 NM_025074.6 100% Fraser syndrome OMIM

FREM2 NM_207361.5 100% Fraser syndrome OMIM

FTCD NM_006657.2 98% Glutamate formiminotransferase deficiency OMIM

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

FTSJ1 NM_012280.3 100% Mental retardation, X-linked 9/44 OMIM

FUCA1 NM_000147.4 100% Fucosidosis OMIM

GAA NM_000152.3 100% Glycogen storage disease II OMIM Gen Transkript >10x Fenotype GABRA1 NM_000806.5 100% Epileptic encephalopathy, early infantile, 19 OMIM

GABRB3 NM_000814.5 99% Epileptic encephalopathy, early infantile, 43 OMIM

GABRG2 NM_000816.3 100% Epilepsy, generalized, with febrile seizures plus, type 3 OMIM

GAD1 NM_000817.2 100% ?Cerebral palsy, spastic quadriplegic, 1 OMIM

GALC NM_000153.3 100% Krabbe disease OMIM

GALE NM_000403.3 100% Galactose epimerase deficiency OMIM

GALT NM_000155.3 100% Galactosemia OMIM

GAMT NM_000156.5 100% Cerebral creatine deficiency syndrome 2 OMIM

GATAD2B NM_020699.2 100% Mental retardation, autosomal dominant 18 OMIM

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

GBA NM_001005741.2 100% Gaucher disease, perinatal lethal OMIM Gaucher disease, type I OMIM Gaucher disease, type II OMIM Gaucher disease, type III OMIM Gaucher disease, type IIIC OMIM {Lewy body dementia, susceptibility to} OMIM {Parkinson disease, late-onset, susceptibility to} OMIM GBA2 NM_020944.2 100% Spastic paraplegia 46, autosomal recessive OMIM

GCDH NM_000159.3 100% Glutaricaciduria, type I OMIM

GCH1 NM_000161.2 100% Dystonia, DOPA-responsive, with or without hyperphenylalaninemia OMIM Hyperphenylalaninemia, BH4-deficient, B OMIM GCSH NM_004483.4 95% Glycine encephalopathy OMIM

GDI1 NM_001493.2 100% Mental retardation, X-linked 41 OMIM

GFAP NM_002055.4 100% Alexander disease OMIM Gen Transkript >10x Fenotype GFER NM_005262.2 100% Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay OMIM

GFM1 NM_024996.5 100% Combined oxidative phosphorylation deficiency 1 OMIM

GJA1 NM_000165.4 100% Craniometaphyseal dysplasia, autosomal recessive OMIM Erythrokeratodermia variabilis et progressiva OMIM Oculodentodigital dysplasia OMIM Oculodentodigital dysplasia, autosomal recessive OMIM Palmoplantar keratoderma with congenital alopecia OMIM GJC2 NM_020435.3 99% Leukodystrophy, hypomyelinating, 2 OMIM Lymphedema, hereditary, IC OMIM Spastic paraplegia 44, autosomal recessive OMIM GK NM_000167.5 95% Glycerol kinase deficiency OMIM

GLB1 NM_000404.2 100% GM1-gangliosidosis, type I OMIM GM1-gangliosidosis, type II OMIM GM1-gangliosidosis, type III OMIM Mucopolysaccharidosis type IVB (Morquio) OMIM GLDC NM_000170.2 97% Glycine encephalopathy OMIM

GLI2 NM_005270.4 100% Culler-Jones syndrome OMIM Holoprosencephaly 9 OMIM

GLI3 NM_000168.5 100% Greig cephalopolysyndactyly syndrome OMIM Pallister-Hall syndrome OMIM Polydactyly, postaxial, types A1 and B OMIM Polydactyly, preaxial, type IV OMIM GLUD1 NM_005271.3 98% Hyperinsulinism-hyperammonemia syndrome OMIM

GLUL NM_002065.6 100% Glutamine deficiency, congenital OMIM

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

GMPPA NM_205847.2 100% Alacrima, achalasia, and mental retardation syndrome OMIM

GMPPB NM_021971.2 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM GNAO1 NM_020988.2 100% Epileptic encephalopathy, early infantile, 17 OMIM Gen Transkript >10x Fenotype GNAS NM_000516.4 100% McCune-Albright syndrome, somatic, mosaic OMIM Pseudohypoparathyroidism Ia OMIM Pseudohypoparathyroidism Ib OMIM Pseudohypoparathyroidism Ic OMIM Pseudopseudohypoparathyroidism OMIM GNPAT NM_014236.3 100% Rhizomelic chondrodysplasia punctata, type 2 OMIM

GNPTAB NM_024312.4 100% Mucolipidosis II alpha/beta OMIM Mucolipidosis III alpha/beta OMIM

GNPTG NM_032520.4 99% Mucolipidosis III gamma OMIM

GNS NM_002076.3 99% Mucopolysaccharidosis type IIID OMIM

GPC3 NM_004484.3 100% Simpson-Golabi-Behmel syndrome, type 1 OMIM

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

GPSM2 NM_013296.4 100% Chudley-McCullough syndrome OMIM

GRIA3 NM_000828.4 99% 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

GRIN2A NM_000833.4 100% Epilepsy, focal, with speech disorder and with or without mental retardation OMIM

GRIN2B NM_000834.3 100% Epileptic encephalopathy, early infantile, 27 OMIM Mental retardation, autosomal dominant 6 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 92% Mucopolysaccharidosis VII OMIM

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

HCCS NM_005333.4 100% Linear skin defects with multiple congenital anomalies 1 OMIM Gen Transkript >10x Fenotype HCFC1 NM_005334.2 99% Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) OMIM

HCN1 NM_021072.3 100% Epileptic encephalopathy, early infantile, 24 OMIM

HDAC8 NM_018486.2 100% Cornelia de Lange syndrome 5 OMIM

HESX1 NM_003865.2 100% Growth hormone deficiency with pituitary anomalies OMIM Pituitary hormone deficiency, combined, 5 OMIM Septooptic dysplasia OMIM HEXA NM_000520.4 100% GM2-gangliosidosis, several forms OMIM Tay-Sachs disease OMIM [Hex A pseudodeficiency] OMIM HEXB NM_000521.3 100% Sandhoff disease, infantile, juvenile, and adult forms OMIM

HGSNAT NM_152419.2 97% Mucopolysaccharidosis type IIIC (Sanfilippo C) OMIM Retinitis pigmentosa 73 OMIM

HIBCH NM_014362.3 99% 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_005518.3 100% HMG-CoA synthase-2 deficiency OMIM

HOXA1 NM_005522.4 100% Athabaskan brainstem dysgenesis syndrome OMIM Bosley-Salih-Alorainy syndrome OMIM

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

HPRT1 NM_000194.2 99% HPRT-related gout OMIM Lesch-Nyhan syndrome OMIM

HRAS NM_005343.2 100% Congenital myopathy with excess of muscle spindles OMIM Costello syndrome OMIM Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic OMIM HSD17B10 NM_004493.2 100% 17-beta-hydroxysteroid dehydrogenase X deficiency OMIM ?Mental retardation, X-linked syndromic 10 OMIM

HSD17B4 NM_000414.3 100% D-bifunctional protein deficiency OMIM Perrault syndrome 1 OMIM

HSPD1 NM_002156.4 99% Leukodystrophy, hypomyelinating, 4 OMIM Spastic paraplegia 13, autosomal dominant OMIM Gen Transkript >10x Fenotype HSPG2 NM_005529.6 99% Dyssegmental dysplasia, Silverman-Handmaker type OMIM 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_000202.6 100% Mucopolysaccharidosis II OMIM

IDUA NM_000203.4 99% Mucopolysaccharidosis Ih OMIM Mucopolysaccharidosis Ih/s OMIM Mucopolysaccharidosis Is OMIM IFIH1 NM_022168.3 100% Aicardi-Goutieres syndrome 7 OMIM Singleton-Merten syndrome 1 OMIM

IFT140 NM_014714.3 100% Short-rib thoracic dysplasia 9 with or without polydactyly OMIM

IFT172 NM_015662.2 100% Retinitis pigmentosa 71 OMIM Short-rib thoracic dysplasia 10 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_000875.4 100% Insulin-like growth factor I, resistance to OMIM

IL1RAPL1 NM_014271.3 100% Mental retardation, X-linked 21/34 OMIM

INPP5E NM_019892.4 100% Joubert syndrome 1 OMIM Mental retardation, truncal obesity, retinal dystrophy, and micropenis OMIM IQSEC2 NM_001111125.2 98% Mental retardation, X-linked 1/78 OMIM

IRX5 NM_005853.5 99% Hamamy syndrome OMIM

ISPD NM_001101426.3 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 OMIM Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 OMIM ITCH NM_031483.5 100% Autoimmune disease, multisystem, with facial dysmorphism OMIM

ITGA7 NM_002206.2 100% Muscular dystrophy, congenital, due to ITGA7 deficiency OMIM Gen Transkript >10x Fenotype ITPR1 NM_002222.5 100% Gillespie syndrome OMIM Spinocerebellar ataxia 15 OMIM Spinocerebellar ataxia 29, congenital nonprogressive OMIM IVD NM_002225.3 100% Isovaleric acidemia OMIM

JAG1 NM_000214.2 100% Alagille syndrome 1 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_001193466.1 100% Koolen-De Vries syndrome OMIM

KAT6B NM_012330.3 100% Genitopatellar syndrome OMIM SBBYSS syndrome OMIM

KCNH1 NM_172362.2 100% Temple-Baraitser syndrome OMIM Zimmermann-Laband syndrome 1 OMIM

KCNJ10 NM_002241.4 100% Enlarged vestibular aqueduct, digenic OMIM SESAME syndrome OMIM

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

KCNQ2 NM_172107.2 100% Epileptic encephalopathy, early infantile, 7 OMIM Myokymia OMIM Seizures, benign neonatal, 1 OMIM KCNT1 NM_020822.2 99% Epilepsy, nocturnal frontal lobe, 5 OMIM Epileptic encephalopathy, early infantile, 14 OMIM

KCTD7 NM_153033.4 100% Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM

KDM5C NM_004187.3 99% Mental retardation, X-linked, syndromic, Claes-Jensen type OMIM

KDM6A NM_021140.3 99% Kabuki syndrome 2 OMIM

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

KIAA1279 NM_015634.3 100% Goldberg-Shprintzen megacolon syndrome OMIM

KIAA2022 NM_001008537.2 100% Mental retardation, X-linked 98 OMIM Gen Transkript >10x Fenotype KIF11 NM_004523.3 99% Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation OMIM

KIF1A NM_004321.6 100% Mental retardation, autosomal dominant 9 OMIM Neuropathy, hereditary sensory, type IIC OMIM Spastic paraplegia 30, autosomal recessive OMIM KIF2A NM_001098511.2 100% Cortical dysplasia, complex, with other brain malformations 3 OMIM

KIF4A NM_012310.4 99% ?Mental retardation, X-linked 100 OMIM

KIF5C NM_004522.2 100% Cortical dysplasia, complex, with other brain malformations 2 OMIM

KIF7 NM_198525.2 98% ?Al-Gazali-Bakalinova syndrome OMIM ?Hydrolethalus syndrome 2 OMIM Acrocallosal syndrome OMIM Joubert syndrome 12 OMIM KIRREL3 NM_032531.3 100% Mental retardation, autosomal dominant 4 OMIM

KLHL40 NM_152393.3 100% Nemaline myopathy 8, autosomal recessive OMIM

KMT2A NM_001197104.1 100% Leukemia, myeloid/lymphoid or mixed-lineage OMIM Wiedemann-Steiner syndrome OMIM

KMT2D NM_003482.3 100% Kabuki syndrome 1 OMIM

KPTN NM_007059.3 100% Mental retardation, autosomal recessive 41 OMIM

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

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

LAMA1 NM_005559.3 100% Poretti-Boltshauser syndrome OMIM

LAMA2 NM_000426.3 100% Muscular dystrophy, congenital merosin-deficient OMIM Muscular dystrophy, congenital, due to partial LAMA2 deficiency OMIM LAMB1 NM_002291.2 100% Lissencephaly 5 OMIM GenLAMC3 TNM_006059.3ranskript >10x100% FenotypeCortical malformations, occipital OMIM

LAMP2 NM_002294.2 97% Danon disease OMIM

LARGE NM_004737.4 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 OMIM Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 OMIM LARP7 NM_016648.3 97% Alazami syndrome OMIM

LHX3 NM_014564.3 100% Pituitary hormone deficiency, combined, 3 OMIM

LHX4 NM_033343.3 100% Pituitary hormone deficiency, combined, 4 OMIM

LIG4 NM_002312.3 100% LIG4 syndrome OMIM

LINS NM_001040616.2 100% Mental retardation, autosomal recessive 27 OMIM

LMBRD1 NM_018368.3 99% Methylmalonic aciduria and homocystinuria, cblF type OMIM

LRP2 NM_004525.2 100% Donnai-Barrow syndrome OMIM

LRP5 NM_002335.3 99% Exudative vitreoretinopathy 4 OMIM Osteopetrosis, autosomal dominant 1 OMIM Osteoporosis-pseudoglioma syndrome OMIM Osteosclerosis OMIM van Buchem disease, type 2 OMIM LRPPRC NM_133259.3 99% Leigh syndrome, French-Canadian type OMIM

LYST NM_000081.3 99% Chediak-Higashi syndrome OMIM

MAB21L2 NM_006439.4 100% Microphthalmia, syndromic 14 OMIM

MAGEL2 NM_019066.4 97% Schaaf-Yang syndrome OMIM

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

MAN2B1 NM_000528.3 100% Mannosidosis, alpha-, types I and II OMIM

MANBA NM_005908.3 100% Mannosidosis, beta OMIM Gen Transkript >10x Fenotype MAOA NM_000240.3 100% Brunner syndrome OMIM {Antisocial behavior} OMIM

MAP2K1 NM_002755.3 100% Cardiofaciocutaneous syndrome 3 OMIM

MAP2K2 NM_030662.3 99% Cardiofaciocutaneous syndrome 4 OMIM

MASP1 NM_139125.3 100% 3MC syndrome 1 OMIM

MAT1A NM_000429.2 100% Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency OMIM Methionine adenosyltransferase deficiency, autosomal recessive OMIM MBD5 NM_018328.4 100% 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_020533.2 100% Mucolipidosis IV OMIM

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

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

MED23 NM_015979.3 100% Mental retardation, autosomal recessive 18 OMIM

MEF2C NM_002397.4 100% Chromosome 5q14.3 deletion syndrome OMIM Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations OMIM MEGF10 NM_032446.2 100% Myopathy, areflexia, respiratory distress, and dysphagia, early-onset OMIM Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant OMIM Gen Transkript >10x Fenotype MEGF8 NM_001410.2 100% Carpenter syndrome 2 OMIM

MFSD8 NM_152778.2 100% Ceroid lipofuscinosis, neuronal, 7 OMIM Macular dystrophy with central cone involvement OMIM

MGAT2 NM_002408.3 100% Congenital disorder of glycosylation, type IIa OMIM

MGP NM_000900.3 100% Keutel syndrome OMIM

MICU1 NM_006077.3 100% Myopathy with extrapyramidal signs OMIM

MID1 NM_000381.3 100% Opitz GBBB syndrome, type I OMIM

MKKS NM_018848.3 100% Bardet-Biedl syndrome 6 OMIM McKusick-Kaufman syndrome OMIM

MKS1 NM_017777.3 100% Bardet-Biedl syndrome 13 OMIM Joubert syndrome 28 OMIM Meckel syndrome 1 OMIM MLC1 NM_015166.3 100% Megalencephalic leukoencephalopathy with subcortical cysts OMIM

MLYCD NM_012213.2 100% Malonyl-CoA decarboxylase deficiency OMIM

MMAA NM_172250.2 100% 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_015506.2 100% Methylmalonic aciduria and homocystinuria, cblC type OMIM

MMADHC NM_015702.2 99% Homocystinuria, cblD type, variant 1 OMIM Methylmalonic aciduria and homocystinuria, cblD type OMIM Methylmalonic aciduria, cblD type, variant 2 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 Gen Transkript >10x Fenotype 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 99% Combined oxidative phosphorylation deficiency 10 OMIM

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

MUT NM_000255.3 100% Methylmalonic aciduria, mut(0) type OMIM

MYCN NM_005378.5 100% Feingold syndrome OMIM

MYH3 NM_002470.3 100% Arthrogryposis, distal, type 2A OMIM Arthrogryposis, distal, type 2B OMIM Arthrogryposis, distal, type 8 OMIM MYO5A NM_000259.3 100% Griscelli syndrome, type 1 OMIM

NAA10 NM_003491.3 100% ?Microphthalmia, syndromic 1 OMIM Ogden syndrome OMIM

NAGA NM_000262.2 100% Kanzaki disease OMIM Schindler disease, type I OMIM Schindler disease, type III OMIM NAGLU NM_000263.3 98% ?Charcot-Marie-Tooth disease, axonal, type 2V OMIM Mucopolysaccharidosis type IIIB (Sanfilippo B) OMIM

NAGS NM_153006.2 100% N-acetylglutamate synthase deficiency OMIM

NALCN NM_052867.2 100% Congenital contractures of the limbs and face, hypotonia, and developmental delay OMIM Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 OMIM NBN NM_002485.4 100% Nijmegen breakage syndrome OMIM

NDE1 NM_001143979.1 100% ?Microhydranencephaly OMIM Lissencephaly 4 (with microcephaly) OMIM Gen Transkript >10x Fenotype 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 95% Leigh syndrome OMIM Mitochondrial complex I deficiency OMIM

NDUFS1 NM_005006.6 100% Mitochondrial complex I deficiency OMIM

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

NDUFS7 NM_024407.4 100% Leigh syndrome OMIM

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

NDUFV1 NM_007103.3 100% Mitochondrial complex I deficiency OMIM

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

NEU1 NM_000434.3 99% Sialidosis, type I OMIM Sialidosis, type II OMIM

NF1 NM_000267.3 95% Leukemia, juvenile myelomonocytic OMIM Neurofibromatosis, familial spinal OMIM Neurofibromatosis, type 1 OMIM Neurofibromatosis-Noonan syndrome OMIM Watson syndrome OMIM NFIX NM_002501.3 100% Marshall-Smith syndrome OMIM Sotos syndrome 2 OMIM

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

NGLY1 NM_018297.3 100% Congenital disorder of deglycosylation OMIM

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

NHS NM_198270.3 98% Cataract 40, X-linked OMIM Nance-Horan syndrome OMIM

NIPBL NM_133433.3 99% Cornelia de Lange syndrome 1 OMIM Gen Transkript >10x Fenotype NKX2-1 NM_001079668.2 100% Choreoathetosis, hypothyroidism, and neonatal respiratory distress OMIM

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

NOTCH1 NM_017617.3 99% Adams-Oliver syndrome 5 OMIM Aortic valve disease 1 OMIM

NPC1 NM_000271.4 100% Niemann-Pick disease, type C1 OMIM Niemann-Pick disease, type D OMIM

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

NPHP1 NM_000272.3 100% Joubert syndrome 4 OMIM Nephronophthisis 1, juvenile OMIM Senior-Loken syndrome-1 OMIM NPHP3 NM_153240.4 100% Meckel syndrome 7 OMIM Nephronophthisis 3 OMIM Renal-hepatic-pancreatic dysplasia 1 OMIM NR2F1 NM_005654.5 100% Bosch-Boonstra-Schaaf optic atrophy syndrome OMIM

NRAS NM_002524.4 100% ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic OMIM Noonan syndrome 6 OMIM Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic OMIM NRXN1 NM_001135659.1 100% Pitt-Hopkins-like syndrome 2 OMIM

NSD1 NM_022455.4 100% Beckwith-Wiedemann syndrome OMIM Leukemia, acute myeloid OMIM Sotos syndrome 1 OMIM NSDHL NM_015922.2 100% CHILD syndrome OMIM CK syndrome OMIM

NSUN2 NM_017755.5 97% Mental retardation, autosomal recessive 5 OMIM

NUBPL NM_025152.2 100% Mitochondrial complex I deficiency OMIM

NUP62 NM_001193357.1 100% Striatonigral degeneration, infantile OMIM

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

OFD1 NM_003611.2 95% ?Retinitis pigmentosa 23 OMIM Joubert syndrome 10 OMIM Orofaciodigital syndrome I OMIM Simpson-Golabi-Behmel syndrome, type 2 OMIM Gen Transkript >10x Fenotype OPHN1 NM_002547.2 100% 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% Microphthalmia, syndromic 5 OMIM Pituitary hormone deficiency, combined, 6 OMIM Retinal dystrophy, early-onset, with or without pituitary dysfunction OMIM PACS1 NM_018026.3 99% Schuss-Hoeijmakers sydnrome OMIM

PAFAH1B1 NM_000430.3 98% Lissencephaly 1 OMIM Subcortical laminar heterotopia OMIM

PAH NM_000277.1 100% Phenylketonuria OMIM [Hyperphenylalaninemia, non-PKU mild] OMIM

PAK3 NM_002578.3 100% 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% Pyruvate carboxylase deficiency OMIM Thrombophilia due to protein C deficiency, autosomal dominant OMIM Thrombophilia due to protein C deficiency, autosomal recessive OMIM PCBD1 NM_000281.3 100% Hyperphenylalaninemia, BH4-deficient, D OMIM

PCCA NM_000282.3 99% Propionicacidemia OMIM

PCCB NM_000532.4 100% Propionicacidemia OMIM

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

PCGF2 NM_007144.2 100% No phenotype in OMIM

PCNT NM_006031.5 99% Microcephalic osteodysplastic primordial dwarfism, type II OMIM Gen Transkript >10x Fenotype PDE4D NM_001104631.1 99% Acrodysostosis 2, with or without hormone resistance OMIM

PDHA1 NM_000284.3 99% Pyruvate dehydrogenase E1-alpha deficiency OMIM

PDHX NM_003477.2 100% Lacticacidemia due to PDX1 deficiency OMIM

PDSS1 NM_014317.3 99% 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

PET100 NM_001171155.1 100% Mitochondrial complex IV deficiency OMIM

PEX1 NM_000466.2 100% Heimler syndrome 1 OMIM Peroxisome biogenesis disorder 1A (Zellweger) OMIM Peroxisome biogenesis disorder 1B (NALD/IRD) OMIM PEX10 NM_153818.1 100% Peroxisome biogenesis disorder 6A (Zellweger) OMIM Peroxisome biogenesis disorder 6B OMIM

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

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

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

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

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

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

PEX26 NM_017929.5 100% Peroxisome biogenesis disorder 7A (Zellweger) OMIM Peroxisome biogenesis disorder 7B OMIM

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

PEX5 NM_001131025.1 100% Peroxisome biogenesis disorder 2A (Zellweger) OMIM Peroxisome biogenesis disorder 2B OMIM Rhizomelic chondrodysplasia punctata, type 5 OMIM Gen Transkript >10x Fenotype PEX6 NM_000287.3 99% Heimler syndrome 2 OMIM Peroxisome biogenesis disorder 4A (Zellweger) OMIM Peroxisome biogenesis disorder 4B OMIM PEX7 NM_000288.3 100% Peroxisome biogenesis disorder 9B OMIM Rhizomelic chondrodysplasia punctata, type 1 OMIM

PGAP2 NM_001256240.1 100% Hyperphosphatasia with mental retardation syndrome 3 OMIM

PGAP3 NM_033419.4 100% Hyperphosphatasia with mental retardation syndrome 4 OMIM

PGK1 NM_000291.3 97% Phosphoglycerate kinase 1 deficiency OMIM

PGM3 NM_001199917.1 100% Immunodeficiency 23 OMIM

PHC1 NM_004426.2 99% ?Microcephaly 11, primary, autosomal recessive OMIM

PHF6 NM_032458.2 98% Borjeson-Forssman-Lehmann syndrome OMIM

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

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

PIGA NM_002641.3 99% Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM

PIGL NM_004278.3 100% CHIME syndrome OMIM

PIGN NM_176787.4 100% Multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM

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

PIGV NM_017837.3 100% Hyperphosphatasia with mental retardation syndrome 1 OMIM

PIK3CA NM_006218.2 100% Cowden syndrome 5 OMIM Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic OMIM PIK3R2 NM_005027.3 95% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 OMIM

PLA2G6 NM_003560.2 100% Infantile neuroaxonal dystrophy 1 OMIM Neurodegeneration with brain iron accumulation 2B OMIM Parkinson disease 14, autosomal recessive OMIM Gen Transkript >10x Fenotype PLCB1 NM_015192.3 100% Epileptic encephalopathy, early infantile, 12 OMIM

PLK4 NM_014264.4 100% Microcephaly and chorioretinopathy, autosomal recessive, 2 OMIM

PLOD3 NM_001084.4 100% Lysyl hydroxylase 3 deficiency OMIM

PLP1 NM_000533.4 100% Pelizaeus-Merzbacher disease OMIM Spastic paraplegia 2, X-linked OMIM

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

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

PNPO NM_018129.3 100% Pyridoxamine 5'-phosphate oxidase deficiency OMIM

PNPT1 NM_033109.4 100% Combined oxidative phosphorylation deficiency 13 OMIM Deafness, autosomal recessive 70 OMIM

POGZ NM_015100.3 99% White-Sutton syndrome OMIM

POLG 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 Progressive external ophthalmoplegia, autosomal dominant 1 OMIM Progressive external ophthalmoplegia, autosomal recessive 1 OMIM POLR3A NM_007055.3 100% 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 brain and eye anomalies), type A, 3 OMIM Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 OMIM Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 OMIM Retinitis pigmentosa 76 OMIM POMGNT2 NM_032806.5 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 OMIM

POMT1 NM_007171.3 99% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 OMIM Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 OMIM Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 OMIM Gen Transkript >10x Fenotype POMT2 NM_013382.5 99% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 OMIM Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 OMIM Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 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

PPP2R5D NM_006245.3 100% Mental retardation, autosomal dominant 35 OMIM

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

PQBP1 NM_005710.2 100% Renpenning syndrome OMIM

PRKAR1A NM_002734.4 99% Acrodysostosis 1, with or without hormone resistance OMIM Carney complex, type 1 OMIM Pigmented nodular adrenocortical disease, primary, 1 OMIM PROP1 NM_006261.4 100% Pituitary hormone deficiency, combined, 2 OMIM

PRPS1 NM_002764.3 100% Arts syndrome OMIM Charcot-Marie-Tooth disease, X-linked recessive, 5 OMIM Deafness, X-linked 1 OMIM Gout, PRPS-related OMIM Phosphoribosylpyrophosphate synthetase superactivity OMIM PRRX1 NM_022716.3 100% Agnathia-otocephaly complex OMIM

PRSS12 NM_003619.3 100% Mental retardation, autosomal recessive 1 OMIM

PSAP NM_002778.2 100% Combined SAP deficiency OMIM Gaucher disease, atypical OMIM Krabbe disease, atypical OMIM Metachromatic leukodystrophy due to SAP-b deficiency OMIM PSAT1 NM_058179.3 99% ?Phosphoserine aminotransferase deficiency OMIM Neu-Laxova syndrome 2 OMIM

PSPH NM_004577.3 100% Phosphoserine phosphatase deficiency OMIM

PTCH1 NM_000264.3 100% Holoprosencephaly 7 OMIM Gen Transkript >10x Fenotype PTDSS1 NM_014754.2 100% Lenz-Majewski hyperostotic dwarfism OMIM

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

PTPN11 NM_002834.3 99% LEOPARD syndrome 1 OMIM Metachondromatosis OMIM Noonan syndrome 1 OMIM PTS NM_000317.2 100% Hyperphenylalaninemia, BH4-deficient, A OMIM

PUF60 NM_078480.2 100% Verheij syndrome OMIM

PURA NM_005859.4 100% Mental retardation, autosomal dominant 31 OMIM

PYCR1 NM_006907.3 100% Cutis laxa, autosomal recessive, type IIB OMIM Cutis laxa, autosomal recessive, type IIIB OMIM

QARS NM_005051.2 100% Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy OMIM QDPR NM_000320.2 100% Hyperphenylalaninemia, BH4-deficient, C OMIM

RAB18 NM_021252.4 100% Warburg micro syndrome 3 OMIM

RAB23 NM_183227.2 100% Carpenter syndrome OMIM

RAB39B NM_171998.3 100% ?Waisman syndrome OMIM Mental retardation, X-linked 72 OMIM

RAB3GAP1 NM_012233.2 100% Warburg micro syndrome 1 OMIM

RAB3GAP2 NM_012414.3 100% Martsolf syndrome OMIM Warburg micro syndrome 2 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 Gen Transkript >10x Fenotype RAF1 NM_002880.3 100% LEOPARD syndrome 2 OMIM Noonan syndrome 5 OMIM

RAI1 NM_030665.3 100% Smith-Magenis syndrome OMIM

RANBP2 NM_006267.4 50% {Encephalopathy, acute, infection-induced, 3, susceptibility to} OMIM

RARB NM_000965.4 100% Microphthalmia, syndromic 12 OMIM

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

RBM10 NM_005676.4 99% TARP syndrome OMIM

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

RBPJ NM_005349.3 99% Adams-Oliver syndrome 3 OMIM

RECQL4 NM_004260.3 99% Baller-Gerold syndrome OMIM RAPADILINO syndrome OMIM Rothmund-Thomson syndrome OMIM RELN NM_005045.3 100% Lissencephaly 2 (Norman-Roberts type) OMIM {Epilepsy, familial temporal lobe, 7} OMIM

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

RIT1 NM_006912.5 100% Noonan syndrome 8 OMIM

RMND1 NM_017909.3 100% Combined oxidative phosphorylation deficiency 11 OMIM

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

RNASEH2B NM_024570.3 100% Aicardi-Goutieres syndrome 2 OMIM

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

RNASET2 NM_003730.4 99% Leukoencephalopathy, cystic, without megalencephaly OMIM

RNF135 NM_032322.3 100% Macrocephaly, macrosomia, facial dysmorphism syndrome OMIM Gen Transkript >10x Fenotype RNF168 NM_152617.3 100% RIDDLE syndrome OMIM

ROGDI NM_024589.2 99% Kohlschutter-Tonz syndrome OMIM

ROR2 NM_004560.3 100% Brachydactyly, type B1 OMIM Robinow syndrome, autosomal recessive OMIM

RPGRIP1L NM_015272.2 96% COACH syndrome OMIM Joubert syndrome 7 OMIM Meckel syndrome 5 OMIM RPS19 NM_001022.3 100% Diamond-Blackfan anemia 1 OMIM

RPS6KA3 NM_004586.2 99% Coffin-Lowry syndrome OMIM Mental retardation, X-linked 19 OMIM

RTEL1 NM_032957.4 99% Dyskeratosis congenita, autosomal dominant 4 OMIM Dyskeratosis congenita, autosomal recessive 5 OMIM Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 OMIM RTTN NM_173630.3 99% Microcephaly, short stature, and polymicrogyria with seizures OMIM

RYR1 NM_000540.2 99% Central core disease OMIM King-Denborough syndrome OMIM Minicore myopathy with external ophthalmoplegia OMIM Neuromuscular disease, congenital, with uniform type 1 fiber OMIM SACS NM_014363.5 100% Spastic ataxia, Charlevoix-Saguenay type OMIM

SAMHD1 NM_015474.3 100% ?Chilblain lupus 2 OMIM 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% Dravet syndrome OMIM Epilepsy, generalized, with febrile seizures plus, type 2 OMIM Febrile seizures, familial, 3A OMIM Migraine, familial hemiplegic, 3 OMIM SCN1B NM_001037.4 99% Atrial fibrillation, familial, 13 OMIM Epilepsy, generalized, with febrile seizures plus, type 1 OMIM

SCN2A NM_021007.2 99% Epileptic encephalopathy, early infantile, 11 OMIM Seizures, benign familial infantile, 3 OMIM Gen Transkript >10x Fenotype SCN8A NM_014191.3 100% ?Cognitive impairment with or without cerebellar ataxia OMIM Epileptic encephalopathy, early infantile, 13 OMIM Seizures, benign familial infantile, 5 OMIM SCO1 NM_004589.3 100% Mitochondrial complex IV deficiency OMIM

SCO2 NM_005138.2 100% Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 OMIM Myopia 6 OMIM SDCCAG8 NM_006642.3 100% Bardet-Biedl syndrome 16 OMIM Senior-Loken syndrome 7 OMIM

SDHA NM_004168.3 86% Leigh syndrome OMIM Mitochondrial respiratory chain complex II deficiency OMIM Paragangliomas 5 OMIM SDHAF1 NM_001042631.2 100% Mitochondrial complex II deficiency OMIM

SETBP1 NM_015559.2 98% Mental retardation, autosomal dominant 29 OMIM Schinzel-Giedion midface retraction syndrome OMIM

SETD5 NM_001080517.2 100% Mental retardation, autosomal dominant 23 OMIM

SGSH NM_000199.3 98% Mucopolysaccharidosis type IIIA (Sanfilippo A) OMIM

SHH NM_000193.2 100% Holoprosencephaly 3 OMIM Microphthalmia with coloboma 5 OMIM Schizencephaly OMIM Single median maxillary central incisor 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_005413.3 100% Holoprosencephaly 2 OMIM Schizencephaly OMIM

SKI NM_003036.3 100% Shprintzen-Goldberg syndrome OMIM

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

SLC13A5 NM_177550.4 100% Epileptic encephalopathy, early infantile, 25 OMIM

SLC16A2 NM_006517.4 98% Allan-Herndon-Dudley syndrome OMIM

SLC17A5 NM_012434.4 100% Salla disease OMIM Sialic acid storage disorder, infantile OMIM Gen Transkript >10x Fenotype SLC19A3 NM_025243.3 100% Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine- responsive encephalopathy type 2) OMIM

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

SLC25A15 NM_014252.3 96% Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome OMIM

SLC25A19 NM_021734.4 99% Microcephaly, Amish type OMIM Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy 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_006516.2 100% Dystonia 9 OMIM GLUT1 deficiency syndrome 1, infantile onset, severe OMIM GLUT1 deficiency syndrome 2, childhood onset OMIM Stomatin-deficient cryohydrocytosis with neurologic defects OMIM SLC2A10 NM_030777.3 100% Arterial tortuosity syndrome OMIM

SLC2A2 NM_000340.1 100% Fanconi-Bickel syndrome OMIM

SLC33A1 NM_004733.3 100% Congenital cataracts, hearing loss, and neurodegeneration OMIM Spastic paraplegia 42, autosomal dominant OMIM

SLC35A2 NM_001042498.2 100% Congenital disorder of glycosylation, type IIm OMIM

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

SLC46A1 NM_080669.5 99% Folate malabsorption, hereditary OMIM

SLC4A4 NM_003759.3 100% Renal tubular acidosis, proximal, with ocular abnormalities OMIM

SLC5A5 NM_000453.2 100% Thyroid dyshormonogenesis 1 OMIM

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

SLC6A5 NM_004211.3 100% Hyperekplexia 3 OMIM

SLC6A8 NM_005629.3 98% Cerebral creatine deficiency syndrome 1 OMIM Gen Transkript >10x Fenotype SLC9A6 NM_006359.2 100% Mental retardation, X-linked syndromic, Christianson type OMIM

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

SMAD4 NM_005359.5 100% Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome OMIM Myhre syndrome OMIM Polyposis, juvenile intestinal OMIM SMARCA2 NM_003070.4 98% Nicolaides-Baraitser syndrome OMIM

SMARCA4 NM_001128849.1 100% Coffin-Siris syndrome 4 OMIM {Rhabdoid tumor predisposition syndrome 2} OMIM

SMARCB1 NM_003073.3 100% Coffin-Siris syndrome 3 OMIM {Rhabdoid predisposition syndrome 1} OMIM {Schwannomatosis-1, susceptibility to} OMIM SMARCE1 NM_003079.4 99% Coffin-Siris syndrome 5 OMIM {Meningioma, familial, susceptibility to} OMIM

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

SMC3 NM_005445.3 99% Cornelia de Lange syndrome 3 OMIM

SMOC1 NM_001034852.2 100% Microphthalmia with limb anomalies OMIM

SMPD1 NM_000543.4 100% Niemann-Pick disease, type A OMIM Niemann-Pick disease, type B OMIM

SMS NM_004595.4 96% Mental retardation, X-linked, Snyder-Robinson type OMIM Smith-Magenis syndrome 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

SNRPB NM_003091.3 100% Cerebrocostomandibular syndrome OMIM

SNX14 NM_020468.5 100% Spinocerebellar ataxia, autosomal recessive 20 OMIM

SOBP NM_018013.3 99% Mental retardation, anterior maxillary protrusion, and strabismus OMIM

SOS1 NM_005633.3 100% ?Fibromatosis, gingival, 1 OMIM Noonan syndrome 4 OMIM Gen Transkript >10x Fenotype SOX10 NM_006941.3 100% PCWH syndrome OMIM Waardenburg syndrome, type 2E, with or without neurologic involvement OMIM Waardenburg syndrome, type 4C OMIM SOX11 NM_003108.3 100% Mental retardation, autosomal dominant, 27 OMIM

SOX2 NM_003106.3 100% Microphthalmia, syndromic 3 OMIM Optic nerve hypoplasia and abnormalities of the central nervous system OMIM SOX3 NM_005634.2 99% Mental retardation, X-linked, with isolated growth hormone deficiency OMIM Panhypopituitarism, X-linked OMIM SOX9 NM_000346.3 100% Acampomelic campomelic dysplasia OMIM Campomelic dysplasia OMIM Campomelic dysplasia with autosomal sex reversal OMIM SPEG NM_005876.4 99% Centronuclear myopathy 5 OMIM

SPG11 NM_025137.3 100% Amyotrophic lateral sclerosis 5, juvenile OMIM Charcot-Marie-Tooth disease, axonal, type 2X OMIM Spastic paraplegia 11, autosomal recessive OMIM SPR NM_003124.4 100% Dystonia, dopa-responsive, due to sepiapterin reductase deficiency OMIM

SPRED1 NM_152594.2 99% Legius syndrome OMIM

SPTAN1 NM_001130438.2 100% Epileptic encephalopathy, early infantile, 5 OMIM

SRCAP NM_006662.2 100% Floating-Harbor syndrome OMIM

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

SRPX2 NM_014467.2 100% ?Rolandic epilepsy, mental retardation, and speech dyspraxia OMIM

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

ST3GAL5 NM_003896.3 98% Salt and pepper developmental regression syndrome OMIM

STAMBP NM_006463.4 100% Microcephaly-capillary malformation syndrome OMIM

STIL NM_003035.2 100% Microcephaly 7, primary, autosomal recessive OMIM

STRA6 NM_022369.3 100% Microphthalmia, isolated, with coloboma 8 OMIM Microphthalmia, syndromic 9 OMIM Gen Transkript >10x Fenotype STT3A NM_001278503.1 100% ?Congenital disorder of glycosylation, type Iw OMIM

STT3B NM_178862.2 100% ?Congenital disorder of glycosylation, type Ix 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 95% Charcot-Marie-Tooth disease, type 4K OMIM Leigh syndrome, due to COX IV deficiency OMIM

SYN1 NM_133499.2 98% Epilepsy, X-linked, with variable learning disabilities and behavior disorders OMIM

SYNGAP1 NM_006772.2 98% Mental retardation, autosomal dominant 5 OMIM

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

SZT2 NM_015284.3 100% Epileptic encephalopathy, early infantile, 18 OMIM

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

TACO1 NM_016360.3 100% Mitochondrial complex IV deficiency OMIM

TAF2 NM_003184.3 100% 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% DOOR syndrome OMIM Deafness , autosomal recessive 86 OMIM Deafness, autosomal dominant 65 OMIM Epileptic encephalopathy, early infantile, 16 OMIM Myoclonic epilepsy, infantile, familial OMIM TBCE NM_003193.4 100% Hypoparathyroidism-retardation-dysmorphism syndrome OMIM Kenny-Caffey syndrome, type 1 OMIM

TCF12 NM_207036.1 100% Craniosynostosis 3 OMIM Gen Transkript >10x Fenotype TCF4 NM_001083962.1 100% Corneal dystrophy, Fuchs endothelial, 3 OMIM Pitt-Hopkins syndrome OMIM

TCTN1 NM_001082538.2 100% Joubert syndrome 13 OMIM

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

TCTN3 NM_015631.5 100% Joubert syndrome 18 OMIM Orofaciodigital syndrome IV OMIM

TECPR2 NM_014844.3 100% Spastic paraplegia 49, autosomal recessive OMIM

TFAP2A NM_003220.2 100% Branchiooculofacial syndrome OMIM

TFAP2B NM_003221.3 100% Char syndrome OMIM Patent ductus arteriosus 2 OMIM

TGFBR1 NM_004612.2 97% Loeys-Dietz syndrome 1 OMIM

TGFBR2 NM_003242.5 100% 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 96% Mohr-Tranebjaerg syndrome OMIM

TK2 NM_004614.4 99% ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 OMIM Mitochondrial DNA depletion syndrome 2 (myopathic type) OMIM TM4SF20 NM_024795.3 100% {Specific language impairment 5} OMIM

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% Joubert syndrome 2 OMIM Meckel syndrome 2 OMIM TMEM237 NM_001044385.2 100% Joubert syndrome 14 OMIM GenTMEM5 TNM_014254.2ranskript >10x100% FenotypeMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 OMIM

TMEM67 NM_153704.5 99% COACH syndrome OMIM Joubert syndrome 6 OMIM Meckel syndrome 3 OMIM Nephronophthisis 11 OMIM {Bardet-Biedl syndrome 14, modifier of} OMIM TMEM70 NM_017866.5 100% Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 OMIM

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

TRAPPC11 NM_021942.5 100% Muscular dystrophy, limb-girdle, type 2S OMIM

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

TREX1 NM_033629.4 100% Aicardi-Goutieres syndrome 1, dominant and recessive OMIM Chilblain lupus OMIM Vasculopathy, retinal, with cerebral leukodystrophy OMIM TRIM32 NM_012210.3 100% ?Bardet-Biedl syndrome 11 OMIM Muscular dystrophy, limb-girdle, type 2H OMIM

TSC1 NM_000368.4 99% Tuberous sclerosis-1 OMIM

TSC2 NM_000548.3 100% Tuberous sclerosis-2 OMIM

TSEN2 NM_025265.3 100% Pontocerebellar hypoplasia type 2B OMIM

TSEN34 NM_024075.4 100% ?Pontocerebellar hypoplasia type 2C OMIM

TSEN54 NM_207346.2 99% ?Pontocerebellar hypoplasia type 5 OMIM Pontocerebellar hypoplasia type 2A OMIM Pontocerebellar hypoplasia type 4 OMIM TSPAN7 NM_004615.3 100% Mental retardation, X-linked 58 OMIM

TTC19 NM_017775.3 98% Mitochondrial complex III deficiency, nuclear type 2 OMIM

TTC37 NM_014639.3 100% Trichohepatoenteric syndrome 1 OMIM

TTC8 NM_198309.3 100% ?Retinitis pigmentosa 51 OMIM Bardet-Biedl syndrome 8 OMIM

TTI2 NM_001102401.2 100% Mental retardation, autosomal recessive 39 OMIM Gen Transkript >10x Fenotype TUBA1A NM_006009.3 97% Lissencephaly 3 OMIM

TUBA8 NM_018943.2 100% Polymicrogyria with optic nerve hypoplasia OMIM

TUBB4A NM_006087.3 100% Dystonia 4, torsion, autosomal dominant OMIM Leukodystrophy, hypomyelinating, 6 OMIM

TUBGCP6 NM_020461.3 100% 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_000474.3 100% Craniosynostosis, type 1 OMIM Robinow-Sorauf syndrome OMIM Saethre-Chotzen syndrome OMIM Saethre-Chotzen syndrome with eyelid anomalies OMIM UBE2A NM_003336.3 100% Mental retardation, X-linked syndromic, Nascimento-type OMIM

UBE3A NM_130838.1 99% Angelman syndrome OMIM

UBE3B NM_130466.3 100% Kaufman oculocerebrofacial syndrome OMIM

UBR1 NM_174916.2 100% Johanson-Blizzard syndrome OMIM

UGT1A1 NM_000463.2 100% Crigler-Najjar syndrome, type I OMIM Crigler-Najjar syndrome, type II OMIM [Gilbert syndrome] OMIM UMPS NM_000373.3 100% Orotic aciduria OMIM

UPF3B NM_080632.2 98% Mental retardation, X-linked, syndromic 14 OMIM

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

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 Mental retardation, X-linked 99, syndromic, female-restricted OMIM Gen Transkript >10x Fenotype VIPAS39 NM_022067.3 100% Arthrogryposis, renal dysfunction, and cholestasis 2 OMIM

VLDLR NM_003383.3 100% Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 OMIM

VPS13B NM_017890.4 100% Cohen syndrome OMIM

VPS33B NM_018668.4 100% Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM

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

WAC NM_016628.4 100% Desanto-Shinawi syndrome OMIM

WDPCP NM_015910.5 100% ?Bardet-Biedl syndrome 15 OMIM ?Congenital heart defects, hamartomas of tongue, and polysyndactyly OMIM WDR19 NM_025132.3 100% ?Cranioectodermal dysplasia 4 OMIM ?Short-rib thoracic dysplasia 5 with or without polydactyly OMIM Nephronophthisis 13 OMIM Senior-Loken syndrome 8 OMIM WDR34 NM_052844.3 100% Short-rib thoracic dysplasia 11 with or without polydactyly OMIM

WDR35 NM_001006657.1 99% Cranioectodermal dysplasia 2 OMIM Short-rib thoracic dysplasia 7 with or without polydactyly OMIM

WDR45 NM_007075.3 99% Neurodegeneration with brain iron accululation 5 OMIM

WDR60 NM_018051.4 100% Short-rib thoracic dysplasia 8 with or without polydactyly OMIM

WDR62 NM_001083961.1 99% Microcephaly 2, primary, autosomal recessive, with or without cortical malformations OMIM

WNT1 NM_005430.3 100% Osteogenesis imperfecta, type XV OMIM

WNT3 NM_030753.4 100% ?Tetra-amelia syndrome OMIM

WNT4 NM_030761.4 97% Mullerian aplasia and hyperandrogenism OMIM SERKAL syndrome OMIM

WNT5A NM_003392.4 100% Robinow syndrome, autosomal dominant 1 OMIM

XPA NM_000380.3 100% Xeroderma pigmentosum, group A OMIM Gen Transkript >10x Fenotype XPNPEP3 NM_022098.3 100% Nephronophthisis-like nephropathy 1 OMIM

XYLT1 NM_022166.3 99% Desbuquois dysplasia 2 OMIM

YAP1 NM_001130145.2 99% Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation OMIM

ZBTB16 NM_006006.4 100% Skeletal defects, genital hypoplasia, and mental retardation OMIM

ZBTB20 NM_001164342.2 100% Primrose syndrome OMIM

ZC4H2 NM_018684.3 100% Wieacker-Wolff syndrome OMIM

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

ZDHHC9 NM_016032.3 99% Mental retardation, X-linked syndromic, Raymond type OMIM

ZEB2 NM_014795.3 100% Mowat-Wilson syndrome OMIM

ZFYVE26 NM_015346.3 100% Spastic paraplegia 15, autosomal recessive OMIM

ZIC2 NM_007129.3 95% Holoprosencephaly 5 OMIM

ZNF711 NM_021998.4 99% Mental retardation, X-linked 97 OMIM

ZSWIM6 NM_020928.1 97% Acromelic frontonasal dysostosis OMIM