Psykisk utviklingshemming og forsinket utvikling genetikk/Trio… · Gen Transkript >10x Fenotype...

Psykisk utviklingshemming og forsinket utviklingGenpanel, 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 FenotypeAAAS 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 deficiencyOMIM

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

http://www.omim.org/search/?index=entry&search=AAAShttp://www.omim.org/entry/231550http://www.omim.org/search/?index=entry&search=AASShttp://www.omim.org/entry/268700http://www.omim.org/entry/238700http://www.omim.org/search/?index=entry&search=ABCB7http://www.omim.org/entry/301310http://www.omim.org/search/?index=entry&search=ABCC9http://www.omim.org/entry/239850http://www.omim.org/search/?index=entry&search=ABCD1http://www.omim.org/entry/300100http://www.omim.org/search/?index=entry&search=ABCD4http://www.omim.org/entry/614857http://www.omim.org/search/?index=entry&search=ABHD5http://www.omim.org/entry/275630http://www.omim.org/search/?index=entry&search=ACAD9http://www.omim.org/entry/611126http://www.omim.org/search/?index=entry&search=ACADMhttp://www.omim.org/entry/201450http://www.omim.org/search/?index=entry&search=ACADShttp://www.omim.org/entry/201470http://www.omim.org/search/?index=entry&search=ACADVLhttp://www.omim.org/entry/201475http://www.omim.org/search/?index=entry&search=ACAT1http://www.omim.org/entry/203750http://www.omim.org/search/?index=entry&search=ACO2http://www.omim.org/entry/614559http://www.omim.org/search/?index=entry&search=ACOX1http://www.omim.org/entry/264470http://www.omim.org/search/?index=entry&search=ACSL4http://www.omim.org/entry/300387

Gen Transkript >10x FenotypeACTA2 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

http://www.omim.org/search/?index=entry&search=ACTA2http://www.omim.org/entry/613834http://www.omim.org/search/?index=entry&search=ACTBhttp://www.omim.org/entry/243310http://www.omim.org/entry/607371http://www.omim.org/search/?index=entry&search=ACTG1http://www.omim.org/entry/614583http://www.omim.org/search/?index=entry&search=ACVR1http://www.omim.org/entry/135100http://www.omim.org/search/?index=entry&search=ACVR2Bhttp://www.omim.org/entry/613751http://www.omim.org/search/?index=entry&search=ACY1http://www.omim.org/entry/609924http://www.omim.org/search/?index=entry&search=ADARhttp://www.omim.org/entry/615010http://www.omim.org/search/?index=entry&search=ADCK3http://www.omim.org/entry/612016http://www.omim.org/search/?index=entry&search=ADKhttp://www.omim.org/entry/614300http://www.omim.org/search/?index=entry&search=ADNPhttp://www.omim.org/entry/615873http://www.omim.org/search/?index=entry&search=ADRA2Bhttp://www.omim.org/entry/607876http://www.omim.org/search/?index=entry&search=ADSLhttp://www.omim.org/entry/103050http://www.omim.org/search/?index=entry&search=AFF2http://www.omim.org/entry/309548http://www.omim.org/search/?index=entry&search=AFG3L2http://www.omim.org/entry/614487http://www.omim.org/search/?index=entry&search=AGAhttp://www.omim.org/entry/208400http://www.omim.org/search/?index=entry&search=AGKhttp://www.omim.org/entry/212350http://www.omim.org/entry/614691http://www.omim.org/search/?index=entry&search=AGLhttp://www.omim.org/entry/232400http://www.omim.org/entry/232400http://www.omim.org/search/?index=entry&search=AGXThttp://www.omim.org/entry/259900

Gen Transkript >10x FenotypeAIFM1 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-hydrocephalussyndrome 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 aggregatesOMIM ?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

http://www.omim.org/search/?index=entry&search=AIFM1http://www.omim.org/entry/310490http://www.omim.org/entry/300816http://www.omim.org/search/?index=entry&search=AIMP1http://www.omim.org/entry/260600http://www.omim.org/search/?index=entry&search=AKT1http://www.omim.org/entry/615109http://www.omim.org/search/?index=entry&search=AKT3http://www.omim.org/entry/615937http://www.omim.org/search/?index=entry&search=ALDH18A1http://www.omim.org/entry/219150http://www.omim.org/entry/616603http://www.omim.org/entry/616586http://www.omim.org/entry/601162http://www.omim.org/search/?index=entry&search=ALDH3A2http://www.omim.org/entry/270200http://www.omim.org/search/?index=entry&search=ALDH4A1http://www.omim.org/entry/239510http://www.omim.org/search/?index=entry&search=ALDH5A1http://www.omim.org/entry/271980http://www.omim.org/search/?index=entry&search=ALDH7A1http://www.omim.org/entry/266100http://www.omim.org/search/?index=entry&search=ALDOAhttp://www.omim.org/entry/611881http://www.omim.org/search/?index=entry&search=ALDOBhttp://www.omim.org/entry/229600http://www.omim.org/search/?index=entry&search=ALG1http://www.omim.org/entry/608540http://www.omim.org/search/?index=entry&search=ALG11http://www.omim.org/entry/613661http://www.omim.org/search/?index=entry&search=ALG12http://www.omim.org/entry/607143http://www.omim.org/search/?index=entry&search=ALG13http://www.omim.org/entry/300884http://www.omim.org/search/?index=entry&search=ALG2http://www.omim.org/entry/616228http://www.omim.org/entry/607906http://www.omim.org/search/?index=entry&search=ALG3http://www.omim.org/entry/601110http://www.omim.org/search/?index=entry&search=ALG6http://www.omim.org/entry/603147

Gen Transkript >10x FenotypeALG8 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 hypoalbuminemiaOMIM

ARFGEF2 NM_006420.2 99% Periventricular heterotopia with microcephaly OMIM

ARG1 NM_000045.3 100% Argininemia OMIM

http://www.omim.org/search/?index=entry&search=ALG8http://www.omim.org/entry/608104http://www.omim.org/search/?index=entry&search=ALG9http://www.omim.org/entry/608776http://www.omim.org/search/?index=entry&search=ALMS1http://www.omim.org/entry/203800http://www.omim.org/search/?index=entry&search=ALPLhttp://www.omim.org/entry/241500http://www.omim.org/entry/241510http://www.omim.org/search/?index=entry&search=ALX1http://www.omim.org/entry/613456http://www.omim.org/search/?index=entry&search=ALX3http://www.omim.org/entry/136760http://www.omim.org/search/?index=entry&search=ALX4http://www.omim.org/entry/609597http://www.omim.org/entry/613451http://www.omim.org/search/?index=entry&search=AMER1http://www.omim.org/entry/300373http://www.omim.org/search/?index=entry&search=AMThttp://www.omim.org/entry/605899http://www.omim.org/search/?index=entry&search=ANKRD11http://www.omim.org/entry/148050http://www.omim.org/search/?index=entry&search=AP1S2http://www.omim.org/entry/304340http://www.omim.org/search/?index=entry&search=AP4B1http://www.omim.org/entry/614066http://www.omim.org/search/?index=entry&search=AP4E1http://www.omim.org/entry/613744http://www.omim.org/search/?index=entry&search=AP4M1http://www.omim.org/entry/612936http://www.omim.org/search/?index=entry&search=AP4S1http://www.omim.org/entry/614067http://www.omim.org/search/?index=entry&search=APTXhttp://www.omim.org/entry/208920http://www.omim.org/search/?index=entry&search=ARFGEF2http://www.omim.org/entry/608097http://www.omim.org/search/?index=entry&search=ARG1http://www.omim.org/entry/207800

Gen Transkript >10x FenotypeARHGAP31 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 OMIMFarber 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

http://www.omim.org/search/?index=entry&search=ARHGAP31http://www.omim.org/entry/100300http://www.omim.org/search/?index=entry&search=ARHGEF6http://www.omim.org/entry/300436http://www.omim.org/search/?index=entry&search=ARHGEF9http://www.omim.org/entry/300607http://www.omim.org/search/?index=entry&search=ARID1Ahttp://www.omim.org/entry/614607http://www.omim.org/search/?index=entry&search=ARID1Bhttp://www.omim.org/entry/614562http://www.omim.org/search/?index=entry&search=ARL6http://www.omim.org/entry/600151http://www.omim.org/search/?index=entry&search=ARSAhttp://www.omim.org/entry/250100http://www.omim.org/search/?index=entry&search=ARSEhttp://www.omim.org/entry/302950http://www.omim.org/search/?index=entry&search=ARXhttp://www.omim.org/entry/300215http://www.omim.org/entry/308350http://www.omim.org/entry/300004http://www.omim.org/entry/309510http://www.omim.org/entry/300419http://www.omim.org/entry/300215http://www.omim.org/search/?index=entry&search=ASAH1http://www.omim.org/entry/159950http://www.omim.org/entry/228000http://www.omim.org/search/?index=entry&search=ASLhttp://www.omim.org/entry/207900http://www.omim.org/search/?index=entry&search=ASPAhttp://www.omim.org/entry/271900http://www.omim.org/search/?index=entry&search=ASPMhttp://www.omim.org/entry/608716http://www.omim.org/search/?index=entry&search=ASS1http://www.omim.org/entry/215700http://www.omim.org/search/?index=entry&search=ASXL1http://www.omim.org/entry/605039http://www.omim.org/search/?index=entry&search=ATIChttp://www.omim.org/entry/608688http://www.omim.org/search/?index=entry&search=ATMhttp://www.omim.org/entry/208900

Gen Transkript >10x FenotypeATP13A2 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

http://www.omim.org/search/?index=entry&search=ATP13A2http://www.omim.org/entry/606693http://www.omim.org/entry/606693http://www.omim.org/search/?index=entry&search=ATP1A3http://www.omim.org/entry/601338http://www.omim.org/entry/614820http://www.omim.org/search/?index=entry&search=ATP6AP2http://www.omim.org/entry/300423http://www.omim.org/search/?index=entry&search=ATP7Ahttp://www.omim.org/entry/304150http://www.omim.org/entry/309400http://www.omim.org/search/?index=entry&search=ATRhttp://www.omim.org/entry/210600http://www.omim.org/search/?index=entry&search=ATRXhttp://www.omim.org/entry/309580http://www.omim.org/entry/301040http://www.omim.org/search/?index=entry&search=AUHhttp://www.omim.org/entry/250950http://www.omim.org/search/?index=entry&search=AUTS2http://www.omim.org/entry/615834http://www.omim.org/search/?index=entry&search=B4GALT7http://www.omim.org/entry/130070http://www.omim.org/search/?index=entry&search=BBS1http://www.omim.org/entry/209900http://www.omim.org/search/?index=entry&search=BBS10http://www.omim.org/entry/615987http://www.omim.org/search/?index=entry&search=BBS12http://www.omim.org/entry/615989http://www.omim.org/search/?index=entry&search=BBS2http://www.omim.org/entry/615981http://www.omim.org/search/?index=entry&search=BBS4http://www.omim.org/entry/615982http://www.omim.org/search/?index=entry&search=BBS5http://www.omim.org/entry/615983http://www.omim.org/search/?index=entry&search=BBS7http://www.omim.org/entry/615984http://www.omim.org/search/?index=entry&search=BBS9http://www.omim.org/entry/615986http://www.omim.org/search/?index=entry&search=BCAP31http://www.omim.org/entry/300475http://www.omim.org/search/?index=entry&search=BCKDHAhttp://www.omim.org/entry/248600

Gen Transkript >10x FenotypeBCKDHB NM_183050.2 100% Maple syrup urine disease, type Ib OMIM

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

http://www.omim.org/search/?index=entry&search=BCKDHBhttp://www.omim.org/entry/248600http://www.omim.org/search/?index=entry&search=BCORhttp://www.omim.org/entry/300166http://www.omim.org/search/?index=entry&search=BCS1Lhttp://www.omim.org/entry/262000http://www.omim.org/entry/124000http://www.omim.org/entry/256000http://www.omim.org/search/?index=entry&search=BIN1http://www.omim.org/entry/255200http://www.omim.org/search/?index=entry&search=BLMhttp://www.omim.org/entry/210900http://www.omim.org/search/?index=entry&search=BMP4http://www.omim.org/entry/600625http://www.omim.org/entry/607932http://www.omim.org/search/?index=entry&search=BMPERhttp://www.omim.org/entry/608022http://www.omim.org/search/?index=entry&search=BOLA3http://www.omim.org/entry/614299http://www.omim.org/search/?index=entry&search=BRAFhttp://www.omim.org/entry/115150http://www.omim.org/entry/613706http://www.omim.org/entry/613707http://www.omim.org/search/?index=entry&search=BRAT1http://www.omim.org/entry/614498http://www.omim.org/search/?index=entry&search=BRCA2http://www.omim.org/entry/605724http://www.omim.org/search/?index=entry&search=BRIP1http://www.omim.org/entry/609054http://www.omim.org/search/?index=entry&search=BRWD3http://www.omim.org/entry/300659http://www.omim.org/search/?index=entry&search=BSNDhttp://www.omim.org/entry/602522http://www.omim.org/search/?index=entry&search=BTDhttp://www.omim.org/entry/253260http://www.omim.org/search/?index=entry&search=BUB1Bhttp://www.omim.org/entry/257300http://www.omim.org/search/?index=entry&search=C12orf57http://www.omim.org/entry/218340http://www.omim.org/search/?index=entry&search=C12orf65http://www.omim.org/entry/615035http://www.omim.org/entry/613559http://www.omim.org/search/?index=entry&search=C5orf42http://www.omim.org/entry/277170http://www.omim.org/entry/614615

Gen Transkript >10x FenotypeCA2 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 quadrupedallocomotion 3 OMIM

CACNA1C NM_000719.6 99% Timothy syndrome OMIM

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

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

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

CASK NM_003688.3 99% Mental retardation and microcephaly with pontine and cerebellarhypoplasia 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 neurodegenerationsyndrome OMIM

CBL NM_005188.3 100% Noonan syndrome-like disorder with or without juvenilemyelomonocytic 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

http://www.omim.org/search/?index=entry&search=CA2http://www.omim.org/entry/259730http://www.omim.org/search/?index=entry&search=CA8http://www.omim.org/entry/613227http://www.omim.org/search/?index=entry&search=CACNA1Chttp://www.omim.org/entry/601005http://www.omim.org/search/?index=entry&search=CACNA1Dhttp://www.omim.org/entry/615474http://www.omim.org/search/?index=entry&search=CAMTA1http://www.omim.org/entry/614756http://www.omim.org/search/?index=entry&search=CAPN10http://www.omim.org/entry/601283http://www.ncbi.nlm.nih.gov/pubmed/25773692http://www.omim.org/search/?index=entry&search=CASKhttp://www.omim.org/entry/300749http://www.omim.org/entry/300422http://www.omim.org/entry/300422http://www.omim.org/search/?index=entry&search=CASP2http://www.omim.org/search/?index=entry&search=CAV1http://www.omim.org/entry/612526http://www.omim.org/entry/606721http://www.omim.org/search/?index=entry&search=CBLhttp://www.omim.org/entry/613563http://www.omim.org/search/?index=entry&search=CBShttp://www.omim.org/entry/236200http://www.omim.org/search/?index=entry&search=CC2D1Ahttp://www.omim.org/entry/608443http://www.omim.org/search/?index=entry&search=CC2D2Ahttp://www.omim.org/entry/216360http://www.omim.org/entry/612284http://www.omim.org/entry/612285http://www.omim.org/search/?index=entry&search=CCBE1http://www.omim.org/entry/235510http://www.omim.org/search/?index=entry&search=CCDC22http://www.omim.org/entry/300963http://www.omim.org/search/?index=entry&search=CD96http://www.omim.org/entry/211750http://www.omim.org/search/?index=entry&search=CDC6http://www.omim.org/entry/613805http://www.omim.org/search/?index=entry&search=CDH15http://www.omim.org/entry/612580

Gen Transkript >10x FenotypeCDK5RAP2 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 Joubert syndrome 5 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

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

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

CLN8 NM_018941.3 99% Ceroid lipofuscinosis, neuronal, 8 OMIM Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM

http://www.omim.org/search/?index=entry&search=CDK5RAP2http://www.omim.org/entry/604804http://www.omim.org/search/?index=entry&search=CDKL5http://www.omim.org/entry/300672http://www.omim.org/search/?index=entry&search=CDKN1Chttp://www.omim.org/entry/614732http://www.omim.org/entry/130650http://www.omim.org/search/?index=entry&search=CDONhttp://www.omim.org/entry/614226http://www.omim.org/search/?index=entry&search=CENPJhttp://www.omim.org/entry/608393http://www.omim.org/entry/613676http://www.omim.org/search/?index=entry&search=CEP135http://www.omim.org/entry/614673http://www.omim.org/search/?index=entry&search=CEP152http://www.omim.org/entry/613823http://www.omim.org/entry/614852http://www.omim.org/search/?index=entry&search=CEP290http://www.omim.org/entry/611134http://www.omim.org/entry/610188http://www.omim.org/entry/615991http://www.omim.org/search/?index=entry&search=CEP41http://www.omim.org/entry/614464http://www.omim.org/search/?index=entry&search=CEP57http://www.omim.org/entry/614114http://www.omim.org/search/?index=entry&search=CEP63http://www.omim.org/entry/614728http://www.omim.org/search/?index=entry&search=CHD2http://www.omim.org/entry/615369http://www.omim.org/search/?index=entry&search=CHD7http://www.omim.org/entry/214800http://www.omim.org/search/?index=entry&search=CHST14http://www.omim.org/entry/601776http://www.omim.org/search/?index=entry&search=CLN3http://www.omim.org/entry/204200http://www.omim.org/search/?index=entry&search=CLN5http://www.omim.org/entry/256731http://www.omim.org/search/?index=entry&search=CLN6http://www.omim.org/entry/204300http://www.omim.org/entry/601780http://www.omim.org/search/?index=entry&search=CLN8http://www.omim.org/entry/600143http://www.omim.org/entry/610003

Gen Transkript >10x FenotypeCNKSR2 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 coxidase 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 coxidase deficiency 2 OMIM

CPS1 NM_001875.4 99% Carbamoylphosphate synthetase I deficiency OMIM

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

http://www.omim.org/search/?index=entry&search=CNKSR2http://www.omim.org/search/?index=entry&search=CNTNAP2http://www.omim.org/entry/610042http://www.omim.org/entry/610042http://www.omim.org/search/?index=entry&search=COA5http://www.omim.org/entry/616500http://www.omim.org/search/?index=entry&search=COG1http://www.omim.org/entry/611209http://www.omim.org/search/?index=entry&search=COG4http://www.omim.org/entry/613489http://www.omim.org/search/?index=entry&search=COG5http://www.omim.org/entry/613612http://www.omim.org/search/?index=entry&search=COG7http://www.omim.org/entry/608779http://www.omim.org/search/?index=entry&search=COG8http://www.omim.org/entry/611182http://www.omim.org/search/?index=entry&search=COL18A1http://www.omim.org/entry/267750http://www.omim.org/search/?index=entry&search=COL4A1http://www.omim.org/entry/175780http://www.omim.org/entry/607595http://www.omim.org/search/?index=entry&search=COL4A2http://www.omim.org/entry/614483http://www.omim.org/search/?index=entry&search=COLEC11http://www.omim.org/entry/265050http://www.omim.org/search/?index=entry&search=COQ2http://www.omim.org/entry/607426http://www.omim.org/search/?index=entry&search=COQ9http://www.omim.org/entry/614654http://www.omim.org/search/?index=entry&search=COX10http://www.omim.org/entry/220110http://www.omim.org/entry/256000http://www.omim.org/search/?index=entry&search=COX15http://www.omim.org/entry/256000http://www.omim.org/entry/615119http://www.omim.org/search/?index=entry&search=CPS1http://www.omim.org/entry/237300http://www.omim.org/search/?index=entry&search=CRADDhttp://www.omim.org/entry/614499

Gen Transkript >10x FenotypeCRBN 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 andeye anomalies), type A, 9 OMIM

DARS2 NM_018122.4 100% Leukoencephalopathy with brain stem and spinal cord involvementand 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

http://www.omim.org/search/?index=entry&search=CRBNhttp://www.omim.org/entry/607417http://www.omim.org/search/?index=entry&search=CREBBPhttp://www.omim.org/entry/180849http://www.omim.org/search/?index=entry&search=CSTBhttp://www.omim.org/entry/254800http://www.omim.org/search/?index=entry&search=CTC1http://www.omim.org/entry/612199http://www.omim.org/search/?index=entry&search=CTDP1http://www.omim.org/entry/604168http://www.omim.org/search/?index=entry&search=CTNNB1http://www.omim.org/entry/615075http://www.omim.org/search/?index=entry&search=CTSAhttp://www.omim.org/entry/256540http://www.omim.org/search/?index=entry&search=CTSDhttp://www.omim.org/entry/610127http://www.omim.org/search/?index=entry&search=CUL4Bhttp://www.omim.org/entry/300354http://www.omim.org/search/?index=entry&search=CYB5R3http://www.omim.org/entry/250800http://www.omim.org/entry/250800http://www.omim.org/search/?index=entry&search=DAG1http://www.omim.org/entry/616538http://www.omim.org/search/?index=entry&search=DARS2http://www.omim.org/entry/611105http://www.omim.org/search/?index=entry&search=DBThttp://www.omim.org/entry/248600http://www.omim.org/search/?index=entry&search=DCAF17http://www.omim.org/entry/241080http://www.omim.org/search/?index=entry&search=DCXhttp://www.omim.org/entry/300067http://www.omim.org/entry/300067http://www.omim.org/search/?index=entry&search=DDChttp://www.omim.org/entry/608643http://www.omim.org/search/?index=entry&search=DDOSThttp://www.omim.org/entry/614507http://www.omim.org/search/?index=entry&search=DDX11http://www.omim.org/entry/613398

Gen Transkript >10x FenotypeDEAF1 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 deficiencyOMIM

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 anomaliessyndrome 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 aggregatesOMIM Congenital disorder of glycosylation, type Ij OMIM

http://www.omim.org/search/?index=entry&search=DEAF1http://www.omim.org/entry/615828http://www.omim.org/search/?index=entry&search=DHCR24http://www.omim.org/entry/602398http://www.omim.org/search/?index=entry&search=DHCR7http://www.omim.org/entry/270400http://www.omim.org/search/?index=entry&search=DHFRhttp://www.omim.org/entry/613839http://www.omim.org/search/?index=entry&search=DIP2Bhttp://www.omim.org/entry/136630http://www.omim.org/search/?index=entry&search=DIS3L2http://www.omim.org/entry/267000http://www.omim.org/search/?index=entry&search=DKC1http://www.omim.org/entry/305000http://www.omim.org/search/?index=entry&search=DLAThttp://www.omim.org/entry/245348http://www.omim.org/search/?index=entry&search=DLDhttp://www.omim.org/entry/246900http://www.omim.org/search/?index=entry&search=DLG3http://www.omim.org/entry/300850http://www.omim.org/search/?index=entry&search=DMDhttp://www.omim.org/entry/310200http://www.omim.org/search/?index=entry&search=DMPKhttp://www.omim.org/entry/160900http://www.omim.org/search/?index=entry&search=DNM1http://www.omim.org/entry/616346http://www.omim.org/search/?index=entry&search=DNMT3Ahttp://www.omim.org/entry/615879http://www.omim.org/search/?index=entry&search=DNMT3Bhttp://www.omim.org/entry/242860http://www.omim.org/search/?index=entry&search=DOCK6http://www.omim.org/entry/614219http://www.omim.org/search/?index=entry&search=DOLKhttp://www.omim.org/entry/610768http://www.omim.org/search/?index=entry&search=DPAGT1http://www.omim.org/entry/614750http://www.omim.org/entry/608093

Gen Transkript >10x FenotypeDPM1 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

http://www.omim.org/search/?index=entry&search=DPM1http://www.omim.org/entry/608799http://www.omim.org/search/?index=entry&search=DYMhttp://www.omim.org/entry/607326http://www.omim.org/entry/223800http://www.omim.org/search/?index=entry&search=DYNC1H1http://www.omim.org/entry/614563http://www.omim.org/search/?index=entry&search=DYRK1Ahttp://www.omim.org/entry/614104http://www.omim.org/search/?index=entry&search=EBPhttp://www.omim.org/entry/300960http://www.omim.org/entry/302960http://www.omim.org/search/?index=entry&search=EFTUD2http://www.omim.org/entry/610536http://www.omim.org/search/?index=entry&search=EHMT1http://www.omim.org/entry/610253http://www.omim.org/search/?index=entry&search=EIF2AK3http://www.omim.org/entry/226980http://www.omim.org/search/?index=entry&search=ELAC2http://www.omim.org/entry/615440http://www.omim.org/search/?index=entry&search=ELOVL4http://www.omim.org/entry/614457http://www.omim.org/search/?index=entry&search=ELP2http://www.omim.org/entry/25847581http://www.omim.org/search/?index=entry&search=EMX2http://www.omim.org/entry/269160http://www.omim.org/search/?index=entry&search=EP300http://www.omim.org/entry/613684http://www.omim.org/search/?index=entry&search=ERCC1http://www.omim.org/entry/610758http://www.omim.org/search/?index=entry&search=ERCC2http://www.omim.org/entry/278730http://www.omim.org/entry/601675http://www.omim.org/entry/610756http://www.omim.org/search/?index=entry&search=ERCC3http://www.omim.org/entry/610651http://www.omim.org/search/?index=entry&search=ERCC4http://www.omim.org/entry/615272http://www.omim.org/entry/610965http://www.omim.org/entry/278760http://www.omim.org/search/?index=entry&search=ERCC5http://www.omim.org/entry/278780http://www.omim.org/entry/616570

Gen Transkript >10x FenotypeERCC6 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

http://www.omim.org/search/?index=entry&search=ERCC6http://www.omim.org/entry/133540http://www.omim.org/entry/214150http://www.omim.org/entry/278800http://www.omim.org/search/?index=entry&search=ERCC8http://www.omim.org/entry/216400http://www.omim.org/search/?index=entry&search=ERLIN2http://www.omim.org/entry/611225http://www.omim.org/search/?index=entry&search=ESCO2http://www.omim.org/entry/269000http://www.omim.org/entry/268300http://www.omim.org/search/?index=entry&search=ETFAhttp://www.omim.org/entry/231680http://www.omim.org/search/?index=entry&search=ETFBhttp://www.omim.org/entry/231680http://www.omim.org/search/?index=entry&search=ETFDHhttp://www.omim.org/entry/231680http://www.omim.org/search/?index=entry&search=ETHE1http://www.omim.org/entry/602473http://www.omim.org/search/?index=entry&search=EVChttp://www.omim.org/entry/225500http://www.omim.org/search/?index=entry&search=EVC2http://www.omim.org/entry/225500http://www.omim.org/search/?index=entry&search=EXOSC3http://www.omim.org/entry/614678http://www.omim.org/search/?index=entry&search=EZH2http://www.omim.org/entry/277590http://www.omim.org/search/?index=entry&search=FAM126Ahttp://www.omim.org/entry/610532http://www.omim.org/search/?index=entry&search=FAM134Bhttp://www.omim.org/entry/613115http://www.omim.org/search/?index=entry&search=FAM20Chttp://www.omim.org/entry/259775http://www.omim.org/search/?index=entry&search=FANCAhttp://www.omim.org/entry/227650http://www.omim.org/search/?index=entry&search=FANCBhttp://www.omim.org/entry/300514http://www.omim.org/search/?index=entry&search=FANCChttp://www.omim.org/entry/227645

Gen Transkript >10x FenotypeFANCD2 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 disorderedsteroidogenesis 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 andeye anomalies), type A, 5 OMIM Muscular dystrophy-dystroglycanopathy (congenital with or withoutmental retardation), type B, 5 OMIM

FKTN NM_001079802.1 100% Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4OMIM Muscular dystrophy-dystroglycanopathy (congenital without mentalretardation), type B, 4 OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain andeye anomalies), type A, 4 OMIM

http://www.omim.org/search/?index=entry&search=FANCD2http://www.omim.org/entry/227646http://www.omim.org/search/?index=entry&search=FANCEhttp://www.omim.org/entry/600901http://www.omim.org/search/?index=entry&search=FANCFhttp://www.omim.org/entry/603467http://www.omim.org/search/?index=entry&search=FANCGhttp://www.omim.org/entry/614082http://www.omim.org/search/?index=entry&search=FANCIhttp://www.omim.org/entry/609053http://www.omim.org/search/?index=entry&search=FANCLhttp://www.omim.org/entry/614083http://www.omim.org/search/?index=entry&search=FBN1http://www.omim.org/entry/608328http://www.omim.org/search/?index=entry&search=FBP1http://www.omim.org/entry/229700http://www.omim.org/search/?index=entry&search=FGD1http://www.omim.org/entry/305400http://www.omim.org/entry/305400http://www.omim.org/search/?index=entry&search=FGFR1http://www.omim.org/entry/615465http://www.omim.org/entry/101600http://www.omim.org/search/?index=entry&search=FGFR2http://www.omim.org/entry/123790http://www.omim.org/entry/101200http://www.omim.org/entry/123500http://www.omim.org/entry/101400http://www.omim.org/entry/207410http://www.omim.org/search/?index=entry&search=FGFR3http://www.omim.org/entry/100800http://www.omim.org/entry/616482http://www.omim.org/entry/602849http://www.omim.org/search/?index=entry&search=FHhttp://www.omim.org/entry/606812http://www.omim.org/search/?index=entry&search=FIG4http://www.omim.org/entry/216340http://www.omim.org/entry/611228http://www.omim.org/search/?index=entry&search=FKRPhttp://www.omim.org/entry/613153http://www.omim.org/entry/606612http://www.omim.org/search/?index=entry&search=FKTNhttp://www.omim.org/entry/611588http://www.omim.org/entry/613152http://www.omim.org/entry/253800

Gen Transkript >10x FenotypeFLNA 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-hydrocephalysyndrome 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 withoutautistic 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 dysmorphismOMIM

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

http://www.omim.org/search/?index=entry&search=FLNAhttp://www.omim.org/entry/300321http://www.omim.org/entry/309350http://www.omim.org/entry/300048http://www.omim.org/entry/300048http://www.omim.org/entry/300049http://www.omim.org/entry/304120http://www.omim.org/entry/305620http://www.omim.org/entry/311300http://www.omim.org/search/?index=entry&search=FLVCR2http://www.omim.org/entry/225790http://www.omim.org/search/?index=entry&search=FMR1http://www.omim.org/entry/300624http://www.omim.org/search/?index=entry&search=FOLR1http://www.omim.org/entry/613068http://www.omim.org/search/?index=entry&search=FOXG1http://www.omim.org/entry/613454http://www.omim.org/search/?index=entry&search=FOXP1http://www.omim.org/entry/613670http://www.omim.org/search/?index=entry&search=FOXRED1http://www.omim.org/entry/252010http://www.omim.org/entry/256000http://www.omim.org/search/?index=entry&search=FRAS1http://www.omim.org/entry/219000http://www.omim.org/search/?index=entry&search=FREM2http://www.omim.org/entry/219000http://www.omim.org/search/?index=entry&search=FTCDhttp://www.omim.org/entry/229100http://www.omim.org/search/?index=entry&search=FTLhttp://www.omim.org/entry/615604http://www.omim.org/entry/606159http://www.omim.org/search/?index=entry&search=FTOhttp://www.omim.org/entry/612938http://www.omim.org/search/?index=entry&search=FTSJ1http://www.omim.org/entry/309549http://www.omim.org/search/?index=entry&search=FUCA1http://www.omim.org/entry/230000http://www.omim.org/search/?index=entry&search=GAAhttp://www.omim.org/entry/232300http://www.omim.org/search/?index=entry&search=GABRA1http://www.omim.org/entry/615744http://www.omim.org/search/?index=entry&search=GABRB3http://www.omim.org/entry/612269http://www.ncbi.nlm.nih.gov/pubmed/25356899

Gen Transkript >10x FenotypeGAD1 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

http://www.omim.org/search/?index=entry&search=GAD1http://www.omim.org/entry/603513http://www.omim.org/search/?index=entry&search=GALChttp://www.omim.org/entry/245200http://www.omim.org/search/?index=entry&search=GALEhttp://www.omim.org/entry/230350http://www.omim.org/search/?index=entry&search=GALThttp://www.omim.org/entry/230400http://www.omim.org/search/?index=entry&search=GAMThttp://www.omim.org/entry/612736http://www.omim.org/search/?index=entry&search=GATMhttp://www.omim.org/entry/612718http://www.omim.org/search/?index=entry&search=GBAhttp://www.omim.org/entry/231000http://www.omim.org/entry/230900http://www.omim.org/entry/230800http://www.omim.org/entry/608013http://www.omim.org/entry/231005http://www.omim.org/search/?index=entry&search=GCDHhttp://www.omim.org/entry/231670http://www.omim.org/search/?index=entry&search=GCH1http://www.omim.org/entry/233910http://www.omim.org/search/?index=entry&search=GCSHhttp://www.omim.org/entry/605899http://www.omim.org/search/?index=entry&search=GDI1http://www.omim.org/entry/300849http://www.omim.org/search/?index=entry&search=GFAPhttp://www.omim.org/entry/203450http://www.omim.org/search/?index=entry&search=GFERhttp://www.omim.org/entry/613076http://www.omim.org/search/?index=entry&search=GFM1http://www.omim.org/entry/609060http://www.omim.org/search/?index=entry&search=GJA1http://www.omim.org/entry/257850http://www.omim.org/entry/164200http://www.omim.org/search/?index=entry&search=GJC2http://www.omim.org/entry/613206http://www.omim.org/entry/608804http://www.omim.org/search/?index=entry&search=GKhttp://www.omim.org/entry/307030

Gen Transkript >10x FenotypeGLB1 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

http://www.omim.org/search/?index=entry&search=GLB1http://www.omim.org/entry/230600http://www.omim.org/entry/230500http://www.omim.org/entry/230650http://www.omim.org/search/?index=entry&search=GLDChttp://www.omim.org/entry/605899http://www.omim.org/search/?index=entry&search=GLI2http://www.omim.org/entry/610829http://www.omim.org/entry/615849http://www.omim.org/search/?index=entry&search=GLI3http://www.omim.org/entry/146510http://www.omim.org/entry/175700http://www.omim.org/search/?index=entry&search=GLUD1http://www.omim.org/entry/606762http://www.omim.org/search/?index=entry&search=GLULhttp://www.omim.org/entry/610015http://www.omim.org/search/?index=entry&search=GM2Ahttp://www.omim.org/entry/272750http://www.omim.org/search/?index=entry&search=GNAShttp://www.omim.org/entry/612463http://www.omim.org/entry/612462http://www.omim.org/search/?index=entry&search=GNPAThttp://www.omim.org/entry/222765http://www.omim.org/search/?index=entry&search=GNPTABhttp://www.omim.org/entry/252600http://www.omim.org/entry/252500http://www.omim.org/search/?index=entry&search=GNPTGhttp://www.omim.org/entry/252605http://www.omim.org/search/?index=entry&search=GNShttp://www.omim.org/entry/252940http://www.omim.org/search/?index=entry&search=GPC3http://www.omim.org/entry/312870http://www.omim.org/search/?index=entry&search=GPR56http://www.omim.org/entry/615752http://www.omim.org/entry/606854http://www.omim.org/search/?index=entry&search=GPSM2http://www.omim.org/entry/604213http://www.omim.org/search/?index=entry&search=GRIA3http://www.omim.org/entry/300699http://www.omim.org/search/?index=entry&search=GRIK2http://www.omim.org/entry/611092http://www.omim.org/search/?index=entry&search=GRIN1http://www.omim.org/entry/614254

Gen Transkript >10x FenotypeGRIN2A 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

http://www.omim.org/search/?index=entry&search=GRIN2Ahttp://www.omim.org/entry/245570http://www.omim.org/search/?index=entry&search=GRIN2Bhttp://www.omim.org/entry/613970http://www.omim.org/entry/616139http://www.omim.org/search/?index=entry&search=GRM1http://www.omim.org/entry/614831http://www.omim.org/search/?index=entry&search=GTF2H5http://www.omim.org/entry/616395http://www.omim.org/search/?index=entry&search=GUSBhttp://www.omim.org/entry/253220http://www.omim.org/search/?index=entry&search=HADHhttp://www.omim.org/entry/231530http://www.omim.org/search/?index=entry&search=HCCShttp://www.omim.org/entry/309801http://www.omim.org/search/?index=entry&search=HCN1http://www.omim.org/entry/615871http://www.omim.org/search/?index=entry&search=HDAC4http://www.omim.org/entry/600430http://www.omim.org/search/?index=entry&search=HDAC8http://www.omim.org/entry/300882http://www.omim.org/entry/309585http://www.omim.org/search/?index=entry&search=HESX1http://www.omim.org/entry/182230http://www.omim.org/entry/182230http://www.omim.org/entry/182230http://www.omim.org/search/?index=entry&search=HEXAhttp://www.omim.org/entry/272800http://www.omim.org/entry/272800http://www.omim.org/search/?index=entry&search=HEXBhttp://www.omim.org/entry/268800http://www.omim.org/search/?index=entry&search=HGSNAThttp://www.omim.org/entry/252930http://www.omim.org/search/?index=entry&search=HIBCHhttp://www.omim.org/entry/250620http://www.omim.org/search/?index=entry&search=HLCShttp://www.omim.org/entry/253270http://www.omim.org/search/?index=entry&search=HMGCLhttp://www.omim.org/entry/246450http://www.omim.org/search/?index=entry&search=HMGCS2http://www.omim.org/entry/605911

Gen Transkript >10x FenotypeHOXA1 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, ocularcoloboma and micrognathia OMIM

IGF1 NM_000618.3 100% Growth retardation with deafness and mental retardation due to IGF1deficiency 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

http://www.omim.org/search/?index=entry&search=HOXA1http://www.omim.org/entry/601536http://www.omim.org/entry/601536http://www.omim.org/search/?index=entry&search=HPDhttp://www.omim.org/entry/276710http://www.omim.org/search/?index=entry&search=HPRT1http://www.omim.org/entry/300322http://www.omim.org/search/?index=entry&search=HRAShttp://www.omim.org/entry/218040http://www.omim.org/search/?index=entry&search=HSD17B10http://www.omim.org/entry/300220http://www.omim.org/entry/300438http://www.omim.org/search/?index=entry&search=HSD17B4http://www.omim.org/entry/233400http://www.omim.org/entry/261515http://www.omim.org/search/?index=entry&search=HSPD1http://www.omim.org/entry/612233http://www.omim.org/search/?index=entry&search=HSPG2http://www.omim.org/entry/255800http://www.omim.org/search/?index=entry&search=HUWE1http://www.omim.org/entry/300706http://www.omim.org/search/?index=entry&search=HYLS1http://www.omim.org/entry/236680http://www.omim.org/search/?index=entry&search=IDShttp://www.omim.org/entry/309900http://www.omim.org/search/?index=entry&search=IDUAhttp://www.omim.org/entry/607014http://www.omim.org/search/?index=entry&search=IFIH1http://www.omim.org/entry/615846http://www.omim.org/search/?index=entry&search=IFT140http://www.omim.org/entry/266920http://www.omim.org/search/?index=entry&search=IGBP1http://www.omim.org/entry/300472http://www.omim.org/search/?index=entry&search=IGF1http://www.omim.org/entry/608747http://www.omim.org/search/?index=entry&search=IGF1Rhttp://www.omim.org/entry/270450http://www.omim.org/search/?index=entry&search=IL1RAPL1http://www.omim.org/entry/300143

Gen Transkript >10x FenotypeINPP5E NM_019892.4 93% Mental retardation, truncal obesity, retinal dystrophy, and micropenis

OMIM Joubert syndrome 1 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 andeye 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 intracellularinclusions OMIM

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

http://www.omim.org/search/?index=entry&search=INPP5Ehttp://www.omim.org/entry/610156http://www.omim.org/entry/213300http://www.omim.org/search/?index=entry&search=IQSEC2http://www.omim.org/entry/309530http://www.omim.org/search/?index=entry&search=IRX5http://www.omim.org/entry/611174http://www.omim.org/search/?index=entry&search=ISPDhttp://www.omim.org/entry/614643http://www.omim.org/search/?index=entry&search=ITCHhttp://www.omim.org/entry/613385http://www.omim.org/search/?index=entry&search=ITGA7http://www.omim.org/entry/613204http://www.omim.org/search/?index=entry&search=ITPR1http://www.omim.org/entry/117360http://www.omim.org/search/?index=entry&search=IVDhttp://www.omim.org/entry/243500http://www.omim.org/search/?index=entry&search=JAG1http://www.omim.org/entry/118450http://www.omim.org/search/?index=entry&search=JAM3http://www.omim.org/entry/613730http://www.omim.org/search/?index=entry&search=KANK1http://www.omim.org/entry/612900http://www.omim.org/search/?index=entry&search=KANSL1http://www.omim.org/entry/610443http://www.omim.org/search/?index=entry&search=KAT6Bhttp://www.omim.org/entry/603736http://www.omim.org/entry/606170http://www.omim.org/search/?index=entry&search=KCNJ10http://www.omim.org/entry/612780http://www.omim.org/search/?index=entry&search=KCNMA1http://www.omim.org/entry/609446http://www.omim.org/search/?index=entry&search=KCNQ2http://www.omim.org/entry/121200http://www.omim.org/entry/121200http://www.omim.org/entry/613720http://www.omim.org/search/?index=entry&search=KCTD7http://www.omim.org/entry/611726http://www.omim.org/search/?index=entry&search=KDM5Chttp://www.omim.org/entry/300534

Gen Transkript >10x FenotypeKDM6A 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, ormental 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 intestinalpseudoobstruction 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 deficiencyOMIM

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

http://www.omim.org/search/?index=entry&search=KDM6Ahttp://www.omim.org/entry/300867http://www.omim.org/search/?index=entry&search=KIAA0226http://www.omim.org/entry/615705http://www.omim.org/search/?index=entry&search=KIAA1279http://www.omim.org/entry/609460http://www.omim.org/search/?index=entry&search=KIAA2022http://www.omim.org/entry/300912http://www.omim.org/search/?index=entry&search=KIF11http://www.omim.org/entry/152950http://www.omim.org/search/?index=entry&search=KIF1Ahttp://www.omim.org/entry/610357http://www.omim.org/entry/614213http://www.omim.org/entry/614255http://www.omim.org/search/?index=entry&search=KIF7http://www.omim.org/entry/200990http://www.omim.org/entry/200990http://www.omim.org/search/?index=entry&search=KIRREL3http://www.omim.org/entry/612581http://www.omim.org/search/?index=entry&search=KMT2Dhttp://www.omim.org/entry/147920http://www.omim.org/search/?index=entry&search=KRAShttp://www.omim.org/entry/615278http://www.omim.org/entry/609942http://www.omim.org/search/?index=entry&search=L1CAMhttp://www.omim.org/entry/307000http://www.omim.org/entry/307000http://www.omim.org/entry/307000http://www.omim.org/entry/303350http://www.omim.org/entry/304100http://www.omim.org/entry/303350http://www.omim.org/search/?index=entry&search=L2HGDHhttp://www.omim.org/entry/236792http://www.omim.org/search/?index=entry&search=LAMA1http://www.omim.org/entry/615960http://www.omim.org/search/?index=entry&search=LAMA2http://www.omim.org/entry/607855http://www.omim.org/entry/607855http://www.omim.org/search/?index=entry&search=LAMB1http://www.omim.org/entry/615191http://www.omim.org/search/?index=entry&search=LAMC3http://www.omim.org/entry/614115http://www.omim.org/search/?index=entry&search=LAMP2http://www.omim.org/entry/300257

Gen Transkript >10x FenotypeLARGE NM_004737.4 100% Muscular dystrophy-dystroglycanopathy (congenital with mental

retardation), type B, 6 OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain andeye anomalies), type A, 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

http://www.omim.org/search/?index=entry&search=LARGEhttp://www.omim.org/entry/608840http://www.omim.org/entry/613154http://www.omim.org/search/?index=entry&search=LHX3http://www.omim.org/entry/221750http://www.omim.org/search/?index=entry&search=LHX4http://www.omim.org/entry/262700http://www.omim.org/search/?index=entry&search=LIG4http://www.omim.org/entry/606593http://www.omim.org/search/?index=entry&search=LINShttp://www.omim.org/entry/614340http://www.omim.org/search/?index=entry&search=LMBRD1http://www.omim.org/entry/277380http://www.omim.org/search/?index=entry&search=LRP2http://www.omim.org/entry/222448http://www.omim.org/search/?index=entry&search=LRP5http://www.omim.org/entry/259770http://www.omim.org/search/?index=entry&search=LRPPRChttp://www.omim.org/entry/220111http://www.omim.org/search/?index=entry&search=LYSThttp://www.omim.org/entry/214500http://www.omim.org/search/?index=entry&search=MAGEL2http://www.omim.org/entry/615547http://www.omim.org/search/?index=entry&search=MAN1B1http://www.omim.org/entry/614202http://www.omim.org/search/?index=entry&search=MAN2B1http://www.omim.org/entry/248500http://www.omim.org/search/?index=entry&search=MANBAhttp://www.omim.org/entry/248510http://www.omim.org/search/?index=entry&search=MAOAhttp://www.omim.org/entry/300615http://www.omim.org/search/?index=entry&search=MAP2K1http://www.omim.org/entry/615279http://www.omim.org/search/?index=entry&search=MAP2K2http://www.omim.org/entry/615280http://www.omim.org/search/?index=entry&search=MASP1http://www.omim.org/entry/257920

Gen Transkript >10x FenotypeMAT1A NM_000429.2 99% Methionine adenosyltransferase deficiency, autosomal recessive

OMIM Hypermethioninemia, persistent, autosomal dominant, due tomethionine 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 atrophyOMIM

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

MEF2C NM_002397.4 100% Mental retardation, stereotypic movements, epilepsy, and/or cerebralmalformations OMIM Chromosome 5q14.3 deletion syndrome OMIM

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

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

http://www.omim.org/search/?index=entry&search=MAT1Ahttp://www.omim.org/entry/250850http://www.omim.org/entry/250850http://www.omim.org/search/?index=entry&search=MBD5http://www.omim.org/entry/156200http://www.omim.org/search/?index=entry&search=MCCC1http://www.omim.org/entry/210200http://www.omim.org/search/?index=entry&search=MCCC2http://www.omim.org/entry/210210http://www.omim.org/search/?index=entry&search=MCOLN1http://www.omim.org/entry/252650http://www.omim.org/search/?index=entry&search=MCPH1http://www.omim.org/entry/251200http://www.omim.org/search/?index=entry&search=MECP2http://www.omim.org/entry/300260http://www.omim.org/entry/300673http://www.omim.org/entry/312750http://www.omim.org/entry/312750http://www.omim.org/entry/312750http://www.omim.org/entry/300055http://www.omim.org/search/?index=entry&search=MED12http://www.omim.org/entry/309520http://www.omim.org/entry/305450http://www.omim.org/entry/300895http://www.omim.org/search/?index=entry&search=MED17http://www.omim.org/entry/613668http://www.omim.org/search/?index=entry&search=MED23http://www.omim.org/entry/614249http://www.omim.org/search/?index=entry&search=MEF2Chttp://www.omim.org/entry/613443http://www.omim.org/entry/613443http://www.omim.org/search/?index=entry&search=MEGF10http://www.omim.org/entry/614399http://www.omim.org/search/?index=entry&search=MFSD8http://www.omim.org/entry/610951http://www.omim.org/search/?index=entry&search=MGAT2http://www.omim.org/entry/212066http://www.omim.org/search/?index=entry&search=MGPhttp://www.omim.org/entry/245150http://www.omim.org/search/?index=entry&search=MID1http://www.omim.org/entry/300000http://www.omim.org/search/?index=entry&search=MKKShttp://www.omim.org/entry/236700http://www.omim.org/entry/605231

Gen Transkript >10x FenotypeMKS1 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 insynthesis 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 typeOMIM

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

http://www.omim.org/search/?index=entry&search=MKS1http://www.omim.org/entry/249000http://www.omim.org/entry/615990http://www.omim.org/search/?index=entry&search=MLC1http://www.omim.org/entry/604004http://www.omim.org/search/?index=entry&search=MLYCDhttp://www.omim.org/entry/248360http://www.omim.org/search/?index=entry&search=MMAAhttp://www.omim.org/entry/251100http://www.omim.org/search/?index=entry&search=MMABhttp://www.omim.org/entry/251110http://www.omim.org/search/?index=entry&search=MMACHChttp://www.omim.org/entry/277400http://www.omim.org/search/?index=entry&search=MMADHChttp://www.omim.org/entry/277410http://www.omim.org/entry/277410http://www.omim.org/entry/277410http://www.omim.org/search/?index=entry&search=MOCS1http://www.omim.org/entry/252150http://www.omim.org/search/?index=entry&search=MOCS2http://www.omim.org/entry/252160http://www.omim.org/search/?index=entry&search=MOGShttp://www.omim.org/entry/606056http://www.omim.org/search/?index=entry&search=MPDU1http://www.omim.org/entry/609180http://www.omim.org/search/?index=entry&search=MPLKIPhttp://www.omim.org/entry/234050http://www.omim.org/search/?index=entry&search=MPV17http://www.omim.org/entry/256810http://www.omim.org/search/?index=entry&search=MRE11Ahttp://www.omim.org/entry/604391http://www.omim.org/search/?index=entry&search=MTHFRhttp://www.omim.org/entry/236250http://www.omim.org/search/?index=entry&search=MTO1http://www.omim.org/entry/614702http://www.omim.org/search/?index=entry&search=MTRhttp://www.omim.org/entry/601634http://www.omim.org/entry/250940http://www.omim.org/search/?index=entry&search=MTRRhttp://www.omim.org/entry/236270

Gen Transkript >10x FenotypeMUT 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

http://www.omim.org/search/?index=entry&search=MUThttp://www.omim.org/entry/251000http://www.omim.org/search/?index=entry&search=MYCNhttp://www.omim.org/entry/164280http://www.omim.org/search/?index=entry&search=MYH3http://www.omim.org/entry/193700http://www.omim.org/search/?index=entry&search=MYO5Ahttp://www.omim.org/entry/214450http://www.omim.org/search/?index=entry&search=NAA10http://www.omim.org/entry/300855http://www.omim.org/entry/309800http://www.omim.org/search/?index=entry&search=NAGAhttp://www.omim.org/entry/609241http://www.omim.org/entry/609242http://www.omim.org/entry/609241http://www.omim.org/search/?index=entry&search=NAGLUhttp://www.omim.org/entry/252920http://www.omim.org/search/?index=entry&search=NAGShttp://www.omim.org/entry/237310http://www.omim.org/search/?index=entry&search=NBNhttp://www.omim.org/entry/251260http://www.omim.org/search/?index=entry&search=NDE1http://www.omim.org/entry/614019http://www.omim.org/entry/605013http://www.omim.org/search/?index=entry&search=NDPhttp://www.omim.org/entry/310600http://www.omim.org/search/?index=entry&search=NDST1http://www.omim.org/entry/616116http://www.omim.org/search/?index=entry&search=NDUFA1http://www.omim.org/entry/252010http://www.omim.org/search/?index=entry&search=NDUFAF2http://www.omim.org/entry/252010http://www.omim.org/entry/256000http://www.omim.org/search/?index=entry&search=NDUFS1http://www.omim.org/entry/252010http://www.omim.org/search/?index=entry&search=NDUFS4http://www.omim.org/entry/252010http://www.omim.org/entry/256000http://www.omim.org/search/?index=entry&search=NDUFS7http://www.omim.org/entry/256000http://www.omim.org/search/?index=entry&search=NDUFS8http://www.omim.org/entry/256000

Gen Transkript >10x FenotypeNDUFV1 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

http://www.omim.org/search/?index=entry&search=NDUFV1http://www.omim.org/entry/252010http://www.omim.org/search/?index=entry&search=NEK1http://www.omim.org/entry/263520http://www.omim.org/search/?index=entry&search=NEU1http://www.omim.org/entry/256550http://www.omim.org/entry/256550http://www.omim.org/search/?index=entry&search=NF1http://www.omim.org/entry/193520http://www.omim.org/entry/601321http://www.omim.org/entry/162200http://www.omim.org/search/?index=entry&search=NFIXhttp://www.omim.org/entry/614753http://www.omim.org/entry/602535http://www.omim.org/search/?index=entry&search=NFU1http://www.omim.org/entry/605711http://www.omim.org/search/?index=entry&search=NHP2http://www.omim.org/entry/613987http://www.omim.org/search/?index=entry&search=NHShttp://www.omim.org/entry/302350http://www.omim.org/search/?index=entry&search=NIPBLhttp://www.omim.org/entry/122470http://www.omim.org/search/?index=entry&search=NKX2-1http://www.omim.org/entry/610978http://www.ncbi.nlm.nih.gov/pubmed/22832740http://www.omim.org/search/?index=entry&search=NOP10http://www.omim.org/entry/224230http://www.omim.org/search/?index=entry&search=NOTCH1http://www.omim.org/entry/616028http://www.omim.org/search/?index=entry&search=NPC1http://www.omim.org/entry/257220http://www.omim.org/entry/257220http://www.omim.org/search/?index=entry&search=NPC2http://www.omim.org/entry/607625http://www.omim.org/search/?index=entry&search=NPHP1http://www.omim.org/entry/266900http://www.omim.org/entry/256100http://www.omim.org/entry/609583http://www.omim.org/search/?index=entry&search=NPHP3http://www.omim.org/entry/208540http://www.omim.org/search/?index=entry&search=NR2F1http://www.omim.org/entry/615722http://www.omim.org/search/?index=entry&search=NRAShttp://www.omim.org/entry/613224

Gen Transkript >10x FenotypeNRXN1 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 Joubert syndrome 10 OMIM

OPHN1 NM_002547.2 98% Mental retardation, X-linked, with cerebellar hypoplasia anddistinctive 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 dysfunctionOMIM 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 hypoplasiaOMIM

PC NM_000920.3 100% Thrombophilia due to protein C deficiency, autosomal recessiveOMIM Pyruvate carboxylase deficiency OMIM

http://www.omim.org/search/?index=entry&search=NRXN1http://www.omim.org/entry/614325http://www.omim.org/search/?index=entry&search=NSD1http://www.omim.org/entry/130650http://www.omim.org/entry/117550http://www.omim.org/search/?index=entry&search=NSDHLhttp://www.omim.org/entry/300831http://www.omim.org/entry/308050http://www.omim.org/search/?index=entry&search=NSUN2http://www.omim.org/entry/611091http://www.omim.org/search/?index=entry&search=NUBPLhttp://www.omim.org/entry/252010http://www.omim.org/search/?index=entry&search=NUP62http://www.omim.org/entry/271930http://www.omim.org/search/?index=entry&search=OCRLhttp://www.omim.org/entry/309000http://www.omim.

Psykisk utviklingshemming og forsinket utvikling genetikk/Trio… · Gen Transkript >10x Fenotype...

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