GENENAME GENEINFO A2ML1 "Gene:A2ML1&HGNC:23336&OMIM:610627&UserInfo:No OMIM phenotype&UserType:SyndrRetard;NonRetardButSyndr;" ABCC9 "Gene:ABCC9&HGNC:60&OMIM:601439&UserInfo:Atrial fibrillation, familial, 12 ; Cardiomyopathy, dilated, 1O ; Hypertrichotic osteochondrodysplasia&UserType:SyndrRetard;NonRetardButSyndr;Cardiopathy;" ABCD1 "Gene:ABCD1&HGNC:61&OMIM:300371&UserInfo:Adrenoleukodystrophy ; Adrenomyeloneuropathy, adult&UserType:SyndrRetard;RetardPlusCerebAbnorm;Metabolism;Neuro;" ABCD4 "Gene:ABCD4&HGNC:68&OMIM:603214&UserInfo:Methylmalonic aciduria and homocystinuria, cblJ type&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;" ABHD5 "Gene:ABHD5&HGNC:21396&OMIM:604780&UserInfo:Chanarin-Dorfman syndrome&UserType:SyndrRetard;Metabolism;" ACAD9 "Gene:ACAD9&HGNC:21497&OMIM:611103&UserInfo:Mitochondrial complex I deficiency due to ACAD9 deficiency&UserType:Encephalo;Metabolism;" ACO2 "Gene:ACO2&HGNC:118&OMIM:100850&UserInfo:?Optic atrophy 9 ; Infantile cerebellar-retinal degeneration&UserType:SyndrRetard;RetardPlusCerebAbnorm;Encephalo;Metabolism;" ACOX1 "Gene:ACOX1&HGNC:119&OMIM:609751&UserInfo:Peroxisomal acyl-CoA oxidase deficiency&UserType:RetardPlusCerebAbnorm;Encephalo;Metabolism;" ACSF3 "Gene:ACSF3&HGNC:27288&OMIM:614245&UserInfo:Combined malonic and methylmalonic aciduria&UserType:Metabolism;Neuro;" ACSL4 "Gene:ACSL4&HGNC:3571&OMIM:300157&UserInfo:Mental retardation, X-linked 63&UserType:NonSyndrRetard;SyndrRetard;" ACTB "Gene:ACTB&HGNC:132&OMIM:102630&UserInfo:?Dystonia, juvenile-onset ; Baraitser-Winter syndrome 1&UserType:SyndrRetard;RetardPlusCerebAbnorm;" ACTG1 "Gene:ACTG1&HGNC:144&OMIM:102560&UserInfo:Baraitser-Winter syndrome 2 ; Deafness, autosomal dominant 20/26&UserType:SyndrRetard;RetardPlusCerebAbnorm;" ACY1 "Gene:ACY1&HGNC:177&OMIM:104620&UserInfo:Aminoacylase 1 deficiency&UserType:NonSyndrRetard;Metabolism;Neuro;" ADAR "Gene:ADAR&HGNC:225&OMIM:146920&UserInfo:Aicardi-Goutieres syndrome 6 ; Dyschromatosis symmetrica hereditaria&UserType:Encephalo;" ADAT3 Gene:ADAT3&HGNC:25151&OMIM:615302&UserInfo:Mental retardation, autosomal recessive 36&UserType: ADGRG1 "Gene:ADGRG1&HGNC:4512&OMIM:604110&UserInfo:Polymicrogyria, bilateral frontoparietal ; Polymicrogyria, bilateral perisylvian&UserType:RetardPlusCerebAbnorm;" ADK "Gene:ADK&HGNC:257&OMIM:102750&UserInfo:Hypermethioninemia due to adenosine kinase deficiency&UserType:NonSyndrRetard;SyndrRetard;Metabolism;" ADNP Gene:ADNP&HGNC:15766&OMIM:611386&UserInfo:Helsmoortel-van der Aa syndrome&UserType: ADSL "Gene:ADSL&HGNC:291&OMIM:608222&UserInfo:Adenylosuccinase deficiency&UserType:Encephalo;Metabolism;" AFF2 "Gene:AFF2&HGNC:3776&OMIM:300806&UserInfo:Mental retardation, X-linked, FRAXE type&UserType:NonSyndrRetard;" AGA "Gene:AGA&HGNC:318&OMIM:613228&UserInfo:Aspartylglucosaminuria&UserType:SyndrRetard;Metabolism;" AGO2 Gene:AGO2&HGNC:3263&OMIM:606229&UserInfo:No OMIM phenotype&UserType: AGPAT2 "Gene:AGPAT2&HGNC:325&OMIM:603100&UserInfo:Lipodystrophy, congenital generalized, type 1&UserType:SyndrRetard;Metabolism;NonRetardButSyndr;" AHCY "Gene:AHCY&HGNC:343&OMIM:180960&UserInfo:Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase&UserType:NonSyndrRetard;Encephalo;Metabolism;" AHDC1 "Gene:AHDC1&HGNC:25230&OMIM:615790&UserInfo:Xia-Gibbs syndrome&UserType:SyndrRetard;" AHI1 "Gene:AHI1&HGNC:21575&OMIM:608894&UserInfo:Joubert syndrome-3&UserType:SyndrRetard;RetardPlusCerebAbnorm;" AIFM1 "Gene:AIFM1&HGNC:8768&OMIM:300169&UserInfo:Combined oxidative phosphorylation deficiency 6 ; Cowchock syndrome ; Deafness, X-linked 5&UserType:Encephalo;Metabolism;" AIMP1 "Gene:AIMP1&HGNC:10648&OMIM:603605&UserInfo:Leukodystrophy, hypomyelinating, 3&UserType:NonSyndrRetard;SyndrRetard;RetardPlusCerebAbnorm;" AKT3 "Gene:AKT3&HGNC:393&OMIM:611223&UserInfo:Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2&UserType:SyndrRetard;RetardPlusCerebAbnorm;" ALDH18A1 "Gene:ALDH18A1&HGNC:9722&OMIM:138250&UserInfo:Cutis laxa, autosomal dominant 3 ; Cutis laxa, autosomal recessive, type IIIA ; Spastic paraplegia 9A, autosomal dominant ; Spastic paraplegia 9B, autosomal recessive&UserType:SyndrRetard;" ALDH3A2 "Gene:ALDH3A2&HGNC:403&OMIM:609523&UserInfo:Sjogren-Larsson syndrome&UserType:SyndrRetard;" ALDH4A1 "Gene:ALDH4A1&HGNC:406&OMIM:606811&UserInfo:Hyperprolinemia, type II&UserType:NonSyndrRetard;Metabolism;" ALDH5A1 "Gene:ALDH5A1&HGNC:408&OMIM:610045&UserInfo:Succinic semialdehyde dehydrogenase deficiency&UserType:NonSyndrRetard;Encephalo;Metabolism;" ALDH7A1 "Gene:ALDH7A1&HGNC:877&OMIM:107323&UserInfo:Epilepsy, pyridoxine-dependent&UserType:NonSyndrRetard;Encephalo;" ALG1 "Gene:ALG1&HGNC:18294&OMIM:605907&UserInfo:Congenital disorder of glycosylation, type Ik&UserType:SyndrRetard;Encephalo;Metabolism;" ALG12 "Gene:ALG12&HGNC:19358&OMIM:607144&UserInfo:Congenital disorder of glycosylation, type Ig&UserType:SyndrRetard;Metabolism;" ALG13 "Gene:ALG13&HGNC:30881&OMIM:300776&UserInfo:Epileptic encephalopathy, early infantile, 36&UserType:NonSyndrRetard;Encephalo;Metabolism;" ALG2 "Gene:ALG2&HGNC:23159&OMIM:607905&UserInfo:?Congenital disorder of glycosylation, type Ii ; Myasthenic syndrome, congenital, 14, with tubular aggregates&UserType:SyndrRetard;Encephalo;Metabolism;" ALG3 "Gene:ALG3&HGNC:23056&OMIM:608750&UserInfo:Congenital disorder of glycosylation, type Id&UserType:SyndrRetard;Encephalo;Metabolism;" ALG6 "Gene:ALG6&HGNC:23157&OMIM:604566&UserInfo:Congenital disorder of glycosylation, type Ic&UserType:SyndrRetard;Encephalo;Metabolism;" ALG9 "Gene:ALG9&HGNC:15672&OMIM:606941&UserInfo:Congenital disorder of glycosylation, type Il ; Gillessen-Kaesbach-Nishimura syndrome&UserType:SyndrRetard;Metabolism;" ALMS1 "Gene:ALMS1&HGNC:428&OMIM:606844&UserInfo:Alstrom syndrome&UserType:SyndrRetard;NonRetardButSyndr;Cardiopathy;" ALPL "Gene:ALPL&HGNC:438&OMIM:171760&UserInfo:Hypophosphatasia, adult ; Hypophosphatasia, childhood ; Hypophosphatasia, infantile ; Odontohypophosphatasia&UserType:SyndrRetard;NonRetardButSyndr;" ALX1 "Gene:ALX1&HGNC:1494&OMIM:601527&UserInfo:?Frontonasal dysplasia 3&UserType:SyndrRetard;NonRetardButSyndr;" ALX4 "Gene:ALX4&HGNC:450&OMIM:605420&UserInfo:Frontonasal dysplasia 2 ; Parietal foramina 2 ; Craniosynostosis 5, susceptibility to&UserType:SyndrRetard;NonRetardButSyndr;" AMPD2 "Gene:AMPD2&HGNC:469&OMIM:102771&UserInfo:?Spastic paraplegia 63 ; Pontocerebellar hypoplasia, type 9&UserType:SyndrRetard;RetardPlusCerebAbnorm;" AMT "Gene:AMT&HGNC:473&OMIM:238310&UserInfo:Glycine encephalopathy&UserType:Encephalo;Metabolism;" ANK3 "Gene:ANK3&HGNC:494&OMIM:600465&UserInfo:?Mental retardation, autosomal recessive, 37&UserType:NonSyndrRetard;" ANKRD11 "Gene:ANKRD11&HGNC:21316&OMIM:611192&UserInfo:KBG syndrome&UserType:NonSyndrRetard;SyndrRetard;" ANO10 "Gene:ANO10&HGNC:25519&OMIM:613726&UserInfo:Spinocerebellar ataxia, autosomal recessive 10&UserType:RetardPlusCerebAbnorm;Neuro;" ANTXR1 "Gene:ANTXR1&HGNC:21014&OMIM:606410&UserInfo:GAPO syndrome ; Hemangioma, capillary infantile, susceptibility to&UserType:NonRetardButSyndr;" AP1S2 "Gene:AP1S2&HGNC:560&OMIM:300629&UserInfo:Mental retardation, X-linked syndromic 5&UserType:SyndrRetard;RetardPlusCerebAbnorm;" AP4B1 "Gene:AP4B1&HGNC:572&OMIM:607245&UserInfo:Spastic paraplegia 47, autosomal recessive&UserType:SyndrRetard;Neuro;" AP4E1 "Gene:AP4E1&HGNC:573&OMIM:607244&UserInfo:Spastic paraplegia 51, autosomal recessive ; Stuttering, familial persistent, 1&UserType:SyndrRetard;Neuro;" AP4M1 "Gene:AP4M1&HGNC:574&OMIM:602296&UserInfo:Spastic paraplegia 50, autosomal recessive&UserType:SyndrRetard;Neuro;" AP4S1 "Gene:AP4S1&HGNC:575&OMIM:607243&UserInfo:Spastic paraplegia 52, autosomal recessive&UserType:SyndrRetard;Neuro;" APTX "Gene:APTX&HGNC:15984&OMIM:606350&UserInfo:Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia&UserType:SyndrRetard;Neuro;" ARFGEF2 "Gene:ARFGEF2&HGNC:15853&OMIM:605371&UserInfo:Periventricular heterotopia with microcephaly&UserType:SyndrRetard;RetardPlusCerebAbnorm;" ARG1 "Gene:ARG1&HGNC:663&OMIM:608313&UserInfo:Argininemia&UserType:Metabolism;Neuro;" ARHGAP31 "Gene:ARHGAP31&HGNC:29216&OMIM:610911&UserInfo:Adams-Oliver syndrome 1&UserType:SyndrRetard;NonRetardButSyndr;" ARHGEF6 "Gene:ARHGEF6&HGNC:685&OMIM:300267&UserInfo:Mental retardation, X-linked 46&UserType:NonSyndrRetard;" ARHGEF9 "Gene:ARHGEF9&HGNC:14561&OMIM:300429&UserInfo:Epileptic encephalopathy, early infantile, 8&UserType:SyndrRetard;Encephalo;" ARID1A "Gene:ARID1A&HGNC:11110&OMIM:603024&UserInfo:Coffin-Siris syndrome 2&UserType:SyndrRetard;" ARID1B "Gene:ARID1B&HGNC:18040&OMIM:614556&UserInfo:Coffin-Siris syndrome 1&UserType:NonSyndrRetard;SyndrRetard;" ARID2 Gene:ARID2&HGNC:18037&OMIM:609539&UserInfo:No OMIM phenotype&UserType: ARL13B "Gene:ARL13B&HGNC:25419&OMIM:608922&UserInfo:Joubert syndrome 8&UserType:SyndrRetard;RetardPlusCerebAbnorm;" ARL6 "Gene:ARL6&HGNC:13210&OMIM:608845&UserInfo:?Retinitis pigmentosa 55 ; Bardet-Biedl syndrome 3 ; Bardet-Biedl syndrome 1, modifier of&UserType:SyndrRetard;NonRetardButSyndr;" ARSE "Gene:ARSE&HGNC:719&OMIM:300180&UserInfo:Chondrodysplasia punctata, X-linked recessive&UserType:SyndrRetard;NonRetardButSyndr;" ARX "Gene:ARX&HGNC:18060&OMIM:300382&UserInfo:Epileptic encephalopathy, early infantile, 1 ; Hydranencephaly with abnormal genitalia ; Lissencephaly, X-linked 2 ; Mental retardation, X-linked 29 and others ; Partington syndrome ; Proud syndrome&UserType:SyndrRetard;RetardPlusCerebAbnorm;Encephalo;" ASL "Gene:ASL&HGNC:746&OMIM:608310&UserInfo:Argininosuccinic aciduria&UserType:Metabolism;" ASNS "Gene:ASNS&HGNC:753&OMIM:108370&UserInfo:Asparagine synthetase deficiency&UserType:RetardPlusCerebAbnorm;Encephalo;Metabolism;" ASPA "Gene:ASPA&HGNC:756&OMIM:608034&UserInfo:Canavan disease&UserType:NonSyndrRetard;SyndrRetard;RetardPlusCerebAbnorm;Encephalo;Metabolism;" ASPM "Gene:ASPM&HGNC:19048&OMIM:605481&UserInfo:Microcephaly 5, primary, autosomal recessive&UserType:SyndrRetard;" ASXL1 "Gene:ASXL1&HGNC:18318&OMIM:612990&UserInfo:Bohring-Opitz syndrome ; Myelodysplastic syndrome, somatic&UserType:SyndrRetard;" ASXL3 "Gene:ASXL3&HGNC:29357&OMIM:615115&UserInfo:Bainbridge-Ropers syndrome&UserType:SyndrRetard;" ATIC "Gene:ATIC&HGNC:794&OMIM:601731&UserInfo:AICA-ribosiduria due to ATIC deficiency&UserType:SyndrRetard;Encephalo;Metabolism;" ATP1A3 "Gene:ATP1A3&HGNC:801&OMIM:182350&UserInfo:Alternating hemiplegia of childhood 2 ; CAPOS syndrome ; Dystonia-12&UserType:SyndrRetard;Neuro;" ATP6AP2 "Gene:ATP6AP2&HGNC:18305&OMIM:300556&UserInfo:?Mental retardation, X-linked, syndromic, Hedera type ; ?Parkinsonism with spasticity, X-linked&UserType:" ATP6V0A2 "Gene:ATP6V0A2&HGNC:18481&OMIM:611716&UserInfo:Cutis laxa, autosomal recessive, type IIA ; Wrinkly skin syndrome&UserType:SyndrRetard;" ATP7A "Gene:ATP7A&HGNC:869&OMIM:300011&UserInfo:Menkes disease ; Occipital horn syndrome ; Spinal muscular atrophy, distal, X-linked 3&UserType:SyndrRetard;Encephalo;Metabolism;" ATP8A2 "Gene:ATP8A2&HGNC:13533&OMIM:605870&UserInfo:?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4&UserType:SyndrRetard;" ATR "Gene:ATR&HGNC:882&OMIM:601215&UserInfo:?Cutaneous telangiectasia and cancer syndrome, familial ; Seckel syndrome 1&UserType:SyndrRetard;" ATRIP "Gene:ATRIP&HGNC:33499&OMIM:606605&UserInfo:No OMIM phenotype&UserType:SyndrRetard;" ATRX "Gene:ATRX&HGNC:886&OMIM:300032&UserInfo:Alpha-thalassemia myelodysplasia syndrome, somatic ; Alpha-thalassemia/mental retardation syndrome ; Mental retardation-hypotonic facies syndrome, X-linked&UserType:SyndrRetard;" AUH "Gene:AUH&HGNC:890&OMIM:600529&UserInfo:3-methylglutaconic aciduria, type I&UserType:Metabolism;" AUTS2 "Gene:AUTS2&HGNC:14262&OMIM:607270&UserInfo:Mental retardation, autosomal dominant 26&UserType:NonSyndrRetard;" B3GLCT "Gene:B3GLCT&HGNC:20207&OMIM:610308&UserInfo:Peters-plus syndrome&UserType:SyndrRetard;" B4GALT1 "Gene:B4GALT1&HGNC:924&OMIM:137060&UserInfo:Congenital disorder of glycosylation, type IId&UserType:Metabolism;" B4GALT7 "Gene:B4GALT7&HGNC:930&OMIM:604327&UserInfo:Ehlers-Danlos syndrome with short stature and limb anomalies&UserType:NonRetardButSyndr;" BBS1 "Gene:BBS1&HGNC:966&OMIM:209901&UserInfo:Bardet-Biedl syndrome 1&UserType:SyndrRetard;RetardPlusCerebAbnorm;" BBS10 "Gene:BBS10&HGNC:26291&OMIM:610148&UserInfo:Bardet-Biedl syndrome 10&UserType:SyndrRetard;RetardPlusCerebAbnorm;" BBS12 "Gene:BBS12&HGNC:26648&OMIM:610683&UserInfo:Bardet-Biedl syndrome 12&UserType:SyndrRetard;RetardPlusCerebAbnorm;" BBS2 "Gene:BBS2&HGNC:967&OMIM:606151&UserInfo:Bardet-Biedl syndrome 2 ; Retinitis pigmentosa 74&UserType:SyndrRetard;RetardPlusCerebAbnorm;" BBS4 "Gene:BBS4&HGNC:969&OMIM:600374&UserInfo:Bardet-Biedl syndrome 4&UserType:SyndrRetard;RetardPlusCerebAbnorm;" BBS5 "Gene:BBS5&HGNC:970&OMIM:603650&UserInfo:Bardet-Biedl syndrome 5&UserType:SyndrRetard;RetardPlusCerebAbnorm;" BBS7 "Gene:BBS7&HGNC:18758&OMIM:607590&UserInfo:Bardet-Biedl syndrome 7&UserType:SyndrRetard;RetardPlusCerebAbnorm;" BBS9 "Gene:BBS9&HGNC:30000&OMIM:607968&UserInfo:Bardet-Biedl syndrome 9&UserType:SyndrRetard;RetardPlusCerebAbnorm;" BCKDHA "Gene:BCKDHA&HGNC:986&OMIM:608348&UserInfo:Maple syrup urine disease, type Ia&UserType:Metabolism;" BCKDHB "Gene:BCKDHB&HGNC:987&OMIM:248611&UserInfo:Maple syrup urine disease, type Ib&UserType:Metabolism;" BCL11A Gene:BCL11A&HGNC:13221&OMIM:606557&UserInfo:Intellectual developmental disorder with persistence of fetal hemoglobin&UserType: BCOR "Gene:BCOR&HGNC:20893&OMIM:300485&UserInfo:Microphthalmia, syndromic 2&UserType:NonRetardButSyndr;" BCS1L "Gene:BCS1L&HGNC:1020&OMIM:603647&UserInfo:Bjornstad syndrome ; GRACILE syndrome ; Leigh syndrome ; Mitochondrial complex III deficiency, nuclear type 1&UserType:SyndrRetard;RetardPlusCerebAbnorm;Encephalo;Metabolism;" BLM "Gene:BLM&HGNC:1058&OMIM:604610&UserInfo:Bloom syndrome&UserType:SyndrRetard;NonRetardButSyndr;" BRAF "Gene:BRAF&HGNC:1097&OMIM:164757&UserInfo:Adenocarcinoma of lung, somatic ; Cardiofaciocutaneous syndrome ; Colorectal cancer, somatic ; LEOPARD syndrome 3 ; Melanoma, malignant, somatic ; Nonsmall cell lung cancer, somatic ; Noonan syndrome 7&UserType:SyndrRetard;" BRWD3 "Gene:BRWD3&HGNC:17342&OMIM:300553&UserInfo:Mental retardation, X-linked 93&UserType:NonSyndrRetard;SyndrRetard;" BSCL2 "Gene:BSCL2&HGNC:15832&OMIM:606158&UserInfo:Encephalopathy, progressive, with or without lipodystrophy ; Lipodystrophy, congenital generalized, type 2 ; Neuropathy, distal hereditary motor, type VA ; Silver spastic paraplegia syndrome&UserType:Encephalo;NonRetardButSyndr;Neuro;" BTD "Gene:BTD&HGNC:1122&OMIM:609019&UserInfo:Biotinidase deficiency&UserType:SyndrRetard;Encephalo;Metabolism;" BUB1B "Gene:BUB1B&HGNC:1149&OMIM:602860&UserInfo:Colorectal cancer, somatic ; Mosaic variegated aneuploidy syndrome 1 ; [Premature chromatid separation trait]&UserType:SyndrRetard;" C12orf57 "Gene:C12orf57&HGNC:29521&OMIM:615140&UserInfo:Temtamy syndrome&UserType:SyndrRetard;RetardPlusCerebAbnorm;Encephalo;" C12orf65 "Gene:C12orf65&HGNC:26784&OMIM:613541&UserInfo:Combined oxidative phosphorylation deficiency 7 ; Spastic paraplegia 55, autosomal recessive&UserType:SyndrRetard;Encephalo;Metabolism;Neuro;" C2CD3 "Gene:C2CD3&HGNC:24564&OMIM:615944&UserInfo:?Orofaciodigital syndrome XIV&UserType:SyndrRetard;" C5orf42 "Gene:C5orf42&HGNC:25801&OMIM:614571&UserInfo:Joubert syndrome 17 ; Orofaciodigital syndrome VI&UserType:SyndrRetard;RetardPlusCerebAbnorm;" CA2 "Gene:CA2&HGNC:1373&OMIM:611492&UserInfo:Osteopetrosis, autosomal recessive 3, with renal tubular acidosis&UserType:SyndrRetard;Metabolism;" CA8 "Gene:CA8&HGNC:1382&OMIM:114815&UserInfo:Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3&UserType:SyndrRetard;Neuro;" CACNG2 "Gene:CACNG2&HGNC:1406&OMIM:602911&UserInfo:Mental retardation, autosomal dominant 10&UserType:NonSyndrRetard;" CAMTA1 "Gene:CAMTA1&HGNC:18806&OMIM:611501&UserInfo:Cerebellar ataxia, nonprogressive, with mental retardation&UserType:NonSyndrRetard;SyndrRetard;Neuro;" CASK "Gene:CASK&HGNC:1497&OMIM:300172&UserInfo:FG syndrome 4 ; Mental retardation and microcephaly with pontine and cerebellar hypoplasia ; Mental retardation, with or without nystagmus&UserType:NonSyndrRetard;SyndrRetard;Encephalo;" CBL "Gene:CBL&HGNC:1541&OMIM:165360&UserInfo:?Juvenile myelomonocytic leukemia ; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia&UserType:NonSyndrRetard;" CBS "Gene:CBS&HGNC:1550&OMIM:613381&UserInfo:Homocystinuria, B6-responsive and nonresponsive types ; Thrombosis, hyperhomocysteinemic&UserType:NonSyndrRetard;SyndrRetard;Metabolism;" CC2D1A "Gene:CC2D1A&HGNC:30237&OMIM:610055&UserInfo:Mental retardation, autosomal recessive 3&UserType:NonSyndrRetard;" CC2D2A "Gene:CC2D2A&HGNC:29253&OMIM:612013&UserInfo:COACH syndrome ; Joubert syndrome 9 ; Meckel syndrome 6&UserType:SyndrRetard;RetardPlusCerebAbnorm;" CCBE1 "Gene:CCBE1&HGNC:29426&OMIM:612753&UserInfo:Hennekam lymphangiectasia-lymphedema syndrome 1&UserType:SyndrRetard;" CCDC78 "Gene:CCDC78&HGNC:14153&OMIM:614666&UserInfo:Myopathy, centronuclear, 4&UserType:SyndrRetard;Neuro;" CD96 "Gene:CD96&HGNC:16892&OMIM:606037&UserInfo:C syndrome&UserType:SyndrRetard;" CDC45 "Gene:CDC45&HGNC:1739&OMIM:603465&UserInfo:Meier-Gorlin syndrome 7&UserType:SyndrRetard;" CDC6 "Gene:CDC6&HGNC:1744&OMIM:602627&UserInfo:?Meier-Gorlin syndrome 5&UserType:SyndrRetard;" CDH15 "Gene:CDH15&HGNC:1754&OMIM:114019&UserInfo:Mental retardation, autosomal dominant 3&UserType:NonSyndrRetard;" CDK5RAP2 "Gene:CDK5RAP2&HGNC:18672&OMIM:608201&UserInfo:Microcephaly 3, primary, autosomal recessive&UserType:SyndrRetard;" CDK6 "Gene:CDK6&HGNC:1777&OMIM:603368&UserInfo:?Microcephaly 12, primary, autosomal recessive&UserType:SyndrRetard;" CDKL5 "Gene:CDKL5&HGNC:11411&OMIM:300203&UserInfo:Epileptic encephalopathy, early infantile, 2&UserType:Encephalo;" CDON "Gene:CDON&HGNC:17104&OMIM:608707&UserInfo:Holoprosencephaly 11&UserType:SyndrRetard;RetardPlusCerebAbnorm;" CDT1 "Gene:CDT1&HGNC:24576&OMIM:605525&UserInfo:Meier-Gorlin syndrome 4&UserType:NonSyndrRetard;SyndrRetard;" CENPJ "Gene:CENPJ&HGNC:17272&OMIM:609279&UserInfo:?Seckel syndrome 4 ; Microcephaly 6, primary, autosomal recessive&UserType:SyndrRetard;" CEP135 "Gene:CEP135&HGNC:29086&OMIM:611423&UserInfo:?Microcephaly 8, primary, autosomal recessive&UserType:SyndrRetard;" CEP152 "Gene:CEP152&HGNC:29298&OMIM:613529&UserInfo:Microcephaly 9, primary, autosomal recessive ; Seckel syndrome 5&UserType:SyndrRetard;" CEP290 "Gene:CEP290&HGNC:29021&OMIM:610142&UserInfo:?Bardet-Biedl syndrome 14 ; Joubert syndrome 5 ; Leber congenital amaurosis 10 ; Meckel syndrome 4 ; Senior-Loken syndrome 6&UserType:SyndrRetard;RetardPlusCerebAbnorm;" CEP41 "Gene:CEP41&HGNC:12370&OMIM:610523&UserInfo:Joubert syndrome 15&UserType:SyndrRetard;RetardPlusCerebAbnorm;" CEP63 "Gene:CEP63&HGNC:25815&OMIM:614724&UserInfo:?Seckel syndrome 6&UserType:SyndrRetard;" CHAMP1 "Gene:CHAMP1&HGNC:20311&OMIM:616327&UserInfo:Mental retardation, autosomal dominant 40&UserType:SyndrRetard;" CHD2 "Gene:CHD2&HGNC:1917&OMIM:602119&UserInfo:Epileptic encephalopathy, childhood-onset&UserType:NonSyndrRetard;Encephalo;" CHD7 "Gene:CHD7&HGNC:20626&OMIM:608892&UserInfo:CHARGE syndrome ; Hypogonadotropic hypogonadism 5 with or without anosmia&UserType:SyndrRetard;" CHD8 "Gene:CHD8&HGNC:20153&OMIM:610528&UserInfo:Autism, susceptibility to, 18&UserType:NonSyndrRetard;SyndrRetard;" CHKB "Gene:CHKB&HGNC:1938&OMIM:612395&UserInfo:Muscular dystrophy, congenital, megaconial type&UserType:SyndrRetard;Neuro;" CHMP1A "Gene:CHMP1A&HGNC:8740&OMIM:164010&UserInfo:Pontocerebellar hypoplasia, type 8&UserType:SyndrRetard;RetardPlusCerebAbnorm;" CISD2 "Gene:CISD2&HGNC:24212&OMIM:611507&UserInfo:Wolfram syndrome 2&UserType:SyndrRetard;NonRetardButSyndr;" CLCNKB "Gene:CLCNKB&HGNC:2027&OMIM:602023&UserInfo:Bartter syndrome, type 3 ; Bartter syndrome, type 4b, digenic&UserType:SyndrRetard;NonRetardButSyndr;" CLIC2 "Gene:CLIC2&HGNC:2063&OMIM:300138&UserInfo:?Mental retardation, X-linked, syndromic 32&UserType:SyndrRetard;" CLN3 "Gene:CLN3&HGNC:2074&OMIM:607042&UserInfo:Ceroid lipofuscinosis, neuronal, 3&UserType:Encephalo;Metabolism;Neuro;" CLN5 "Gene:CLN5&HGNC:2076&OMIM:608102&UserInfo:Ceroid lipofuscinosis, neuronal, 5&UserType:Encephalo;Metabolism;Neuro;" CLN6 "Gene:CLN6&HGNC:2077&OMIM:606725&UserInfo:Ceroid lipofuscinosis, neuronal, 6 ; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset&UserType:Encephalo;Metabolism;Neuro;" CLN8 "Gene:CLN8&HGNC:2079&OMIM:607837&UserInfo:Ceroid lipofuscinosis, neuronal, 8 ; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant&UserType:Encephalo;Metabolism;Neuro;" CNKSR2 "Gene:CNKSR2&HGNC:19701&OMIM:300724&UserInfo:No OMIM phenotype&UserType:NonSyndrRetard;" CNTNAP2 "Gene:CNTNAP2&HGNC:13830&OMIM:604569&UserInfo:Cortical dysplasia-focal epilepsy syndrome ; Pitt-Hopkins like syndrome 1 ; Autism susceptibility 15&UserType:NonSyndrRetard;SyndrRetard;RetardPlusCerebAbnorm;" COG1 "Gene:COG1&HGNC:6545&OMIM:606973&UserInfo:Congenital disorder of glycosylation, type IIg&UserType:SyndrRetard;Metabolism;" COG6 "Gene:COG6&HGNC:18621&OMIM:606977&UserInfo:Congenital disorder of glycosylation, type IIl ; Shaheen syndrome&UserType:SyndrRetard;Metabolism;" COG7 "Gene:COG7&HGNC:18622&OMIM:606978&UserInfo:Congenital disorder of glycosylation, type IIe&UserType:SyndrRetard;Metabolism;" COG8 "Gene:COG8&HGNC:18623&OMIM:606979&UserInfo:Congenital disorder of glycosylation, type IIh&UserType:SyndrRetard;Metabolism;" COL4A1 "Gene:COL4A1&HGNC:2202&OMIM:120130&UserInfo:?Retinal arteries, tortuosity of ; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps ; Brain small vessel disease with or without ocular anomalies ; Porencephaly 1 ; Hemorrhage, intracerebral, susceptibility to&UserType:SyndrRetard;RetardPlusCerebAbnorm;NonRetardButSyndr;" COL4A2 "Gene:COL4A2&HGNC:2203&OMIM:120090&UserInfo:Porencephaly 2 ; Hemorrhage, intracerebral, susceptibility to&UserType:SyndrRetard;RetardPlusCerebAbnorm;NonRetardButSyndr;" COL4A3BP "Gene:COL4A3BP&HGNC:2205&OMIM:604677&UserInfo:Mental retardation, autosomal dominant 34&UserType:NonSyndrRetard;" COLEC11 "Gene:COLEC11&HGNC:17213&OMIM:612502&UserInfo:3MC syndrome 2&UserType:SyndrRetard;" COQ2 "Gene:COQ2&HGNC:25223&OMIM:609825&UserInfo:Coenzyme Q10 deficiency, primary, 1 ; Multiple system atrophy, susceptibility to&UserType:SyndrRetard;Encephalo;Metabolism;" COQ4 "Gene:COQ4&HGNC:19693&OMIM:612898&UserInfo:Coenzyme Q10 deficiency, primary, 7&UserType:SyndrRetard;Encephalo;Metabolism;" COQ8A "Gene:COQ8A&HGNC:16812&OMIM:606980&UserInfo:Coenzyme Q10 deficiency, primary, 4&UserType:NonSyndrRetard;Encephalo;Metabolism;" COX10 "Gene:COX10&HGNC:2260&OMIM:602125&UserInfo:Leigh syndrome due to mitochondrial COX4 deficiency ; Mitochondrial complex IV deficiency&UserType:Encephalo;Metabolism;" COX15 "Gene:COX15&HGNC:2263&OMIM:603646&UserInfo:Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 ; Leigh syndrome due to cytochrome c oxidase deficiency&UserType:Encephalo;Metabolism;" CPS1 "Gene:CPS1&HGNC:2323&OMIM:608307&UserInfo:Carbamoylphosphate synthetase I deficiency ; Pulmonary hypertension, neonatal, susceptibility to ; Venoocclusive disease after bone marrow transplantation&UserType:Metabolism;" CRADD "Gene:CRADD&HGNC:2340&OMIM:603454&UserInfo:Mental retardation, autosomal recessive 34&UserType:NonSyndrRetard;" CRBN "Gene:CRBN&HGNC:30185&OMIM:609262&UserInfo:Mental retardation, autosomal recessive 2&UserType:NonSyndrRetard;" CREBBP "Gene:CREBBP&HGNC:2348&OMIM:600140&UserInfo:Rubinstein-Taybi syndrome&UserType:NonSyndrRetard;SyndrRetard;" CSNK2A1 "Gene:CSNK2A1&HGNC:2457&OMIM:115440&UserInfo:Okur-Chung neurodevelopmental syndrome&UserType:SyndrRetard;RetardPlusCerebAbnorm;" CTC1 "Gene:CTC1&HGNC:26169&OMIM:613129&UserInfo:Cerebroretinal microangiopathy with calcifications and cysts&UserType:SyndrRetard;RetardPlusCerebAbnorm;" CTCF "Gene:CTCF&HGNC:13723&OMIM:604167&UserInfo:Mental retardation, autosomal dominant 21&UserType:SyndrRetard;" CTDP1 "Gene:CTDP1&HGNC:2498&OMIM:604927&UserInfo:Congenital cataracts, facial dysmorphism, and neuropathy&UserType:SyndrRetard;" CTNNB1 "Gene:CTNNB1&HGNC:2514&OMIM:116806&UserInfo:Colorectal cancer, somatic ; Hepatocellular carcinoma, somatic ; Mental retardation, autosomal dominant 19 ; Ovarian cancer, somatic ; Pilomatricoma, somatic&UserType:NonSyndrRetard;SyndrRetard;" CTNND1 Gene:CTNND1&HGNC:2515&OMIM:601045&UserInfo:No OMIM phenotype&UserType: CTSA "Gene:CTSA&HGNC:9251&OMIM:613111&UserInfo:Galactosialidosis&UserType:SyndrRetard;Encephalo;Metabolism;" CTSD "Gene:CTSD&HGNC:2529&OMIM:116840&UserInfo:Ceroid lipofuscinosis, neuronal, 10&UserType:SyndrRetard;Encephalo;Metabolism;" CTTNBP2 Gene:CTTNBP2&HGNC:15679&OMIM:609772&UserInfo:No OMIM phenotype&UserType: CUL4B "Gene:CUL4B&HGNC:2555&OMIM:300304&UserInfo:Mental retardation, X-linked, syndromic 15 (Cabezas type)&UserType:NonSyndrRetard;SyndrRetard;" D2HGDH "Gene:D2HGDH&HGNC:28358&OMIM:609186&UserInfo:D-2-hydroxyglutaric aciduria&UserType:Encephalo;Metabolism;Neuro;" DARS2 "Gene:DARS2&HGNC:25538&OMIM:610956&UserInfo:Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" DBT "Gene:DBT&HGNC:2698&OMIM:248610&UserInfo:Maple syrup urine disease, type II&UserType:Metabolism;" DCAF17 "Gene:DCAF17&HGNC:25784&OMIM:612515&UserInfo:Woodhouse-Sakati syndrome&UserType:SyndrRetard;" DCPS "Gene:DCPS&HGNC:29812&OMIM:610534&UserInfo:Al-Raqad syndrome&UserType:SyndrRetard;" DCX "Gene:DCX&HGNC:2714&OMIM:300121&UserInfo:Lissencephaly, X-linked ; Subcortical laminal heteropia, X-linked&UserType:SyndrRetard;RetardPlusCerebAbnorm;" DDHD2 "Gene:DDHD2&HGNC:29106&OMIM:615003&UserInfo:Spastic paraplegia 54, autosomal recessive&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" DDX11 "Gene:DDX11&HGNC:2736&OMIM:601150&UserInfo:Warsaw breakage syndrome&UserType:SyndrRetard;" DDX3X "Gene:DDX3X&HGNC:2745&OMIM:300160&UserInfo:Mental retardation, X-linked 102&UserType:NonSyndrRetard;SyndrRetard;" DEAF1 "Gene:DEAF1&HGNC:14677&OMIM:602635&UserInfo:Mental retardation, autosomal dominant 24&UserType:NonSyndrRetard;SyndrRetard;Neuro;" DHCR24 "Gene:DHCR24&HGNC:2859&OMIM:606418&UserInfo:Desmosterolosis&UserType:NonSyndrRetard;SyndrRetard;Metabolism;" DHCR7 "Gene:DHCR7&HGNC:2860&OMIM:602858&UserInfo:Smith-Lemli-Opitz syndrome&UserType:NonSyndrRetard;SyndrRetard;" DHFR "Gene:DHFR&HGNC:2861&OMIM:126060&UserInfo:Megaloblastic anemia due to dihydrofolate reductase deficiency&UserType:SyndrRetard;Encephalo;Metabolism;" DIAPH1 "Gene:DIAPH1&HGNC:2876&OMIM:602121&UserInfo:Deafness, autosomal dominant 1 ; Seizures, cortical blindness, microcephaly syndrome&UserType:SyndrRetard;Encephalo;NonRetardButSyndr;" DIP2B Gene:DIP2B&HGNC:29284&OMIM:611379&UserInfo:Mental retardation, FRA12A type&UserType: DKC1 "Gene:DKC1&HGNC:2890&OMIM:300126&UserInfo:Dyskeratosis congenita, X-linked&UserType:SyndrRetard;NonRetardButSyndr;" DLD "Gene:DLD&HGNC:2898&OMIM:238331&UserInfo:Dihydrolipoamide dehydrogenase deficiency&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;" DLG3 "Gene:DLG3&HGNC:2902&OMIM:300189&UserInfo:Mental retardation, X-linked 90&UserType:NonSyndrRetard;SyndrRetard;" DLG4 Gene:DLG4&HGNC:2903&OMIM:602887&UserInfo:No OMIM phenotype&UserType: DMD "Gene:DMD&HGNC:2928&OMIM:300377&UserInfo:Becker muscular dystrophy ; Cardiomyopathy, dilated, 3B ; Duchenne muscular dystrophy&UserType:SyndrRetard;Cardiopathy;" DNAJC19 "Gene:DNAJC19&HGNC:30528&OMIM:608977&UserInfo:3-methylglutaconic aciduria, type V&UserType:SyndrRetard;Metabolism;" DNM1 "Gene:DNM1&HGNC:2972&OMIM:602377&UserInfo:Epileptic encephalopathy, early infantile, 31&UserType:Encephalo;" DNMT3A "Gene:DNMT3A&HGNC:2978&OMIM:602769&UserInfo:Tatton-Brown-Rahman syndrome&UserType:SyndrRetard;" DNMT3B "Gene:DNMT3B&HGNC:2979&OMIM:602900&UserInfo:Immunodeficiency-centromeric instability-facial anomalies syndrome 1&UserType:SyndrRetard;" DPAGT1 "Gene:DPAGT1&HGNC:2995&OMIM:191350&UserInfo:Congenital disorder of glycosylation, type Ij ; Myasthenic syndrome, congenital, 13, with tubular aggregates&UserType:SyndrRetard;Encephalo;Metabolism;" DPH1 "Gene:DPH1&HGNC:3003&OMIM:603527&UserInfo:Developmental delay with short stature, dysmorphic features, and sparse hair&UserType:SyndrRetard;" DPM1 "Gene:DPM1&HGNC:3005&OMIM:603503&UserInfo:Congenital disorder of glycosylation, type Ie&UserType:SyndrRetard;Encephalo;Metabolism;" DPP6 "Gene:DPP6&HGNC:3010&OMIM:126141&UserInfo:Mental retardation, autosomal dominant 33 ; Ventricular fibrillation, paroxysmal familial, 2&UserType:NonSyndrRetard;NonRetardButSyndr;" DST "Gene:DST&HGNC:1090&OMIM:113810&UserInfo:?Neuropathy, hereditary sensory and autonomic, type VI ; Epidermolysis bullosa simplex, autosomal recessive 2&UserType:SyndrRetard;" DYNC1H1 "Gene:DYNC1H1&HGNC:2961&OMIM:600112&UserInfo:Charcot-Marie-Tooth disease, axonal, type 20 ; Mental retardation, autosomal dominant 13 ; Spinal muscular atrophy, lower extremity-predominant 1, AD&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" DYRK1A "Gene:DYRK1A&HGNC:3091&OMIM:600855&UserInfo:Mental retardation, autosomal dominant 7&UserType:NonSyndrRetard;SyndrRetard;" EBP "Gene:EBP&HGNC:3133&OMIM:300205&UserInfo:Chondrodysplasia punctata, X-linked dominant ; MEND syndrome&UserType:SyndrRetard;NonRetardButSyndr;" EDC3 "Gene:EDC3&HGNC:26114&OMIM:609842&UserInfo:?Mental retardation, autosomal recessive 50&UserType:SyndrRetard;" EEF1A2 "Gene:EEF1A2&HGNC:3192&OMIM:602959&UserInfo:Epileptic encephalopathy, early infantile, 33 ; Mental retardation, autosomal dominant 38&UserType:SyndrRetard;Encephalo;" EFTUD2 "Gene:EFTUD2&HGNC:30858&OMIM:603892&UserInfo:Mandibulofacial dysostosis, Guion-Almeida type&UserType:NonSyndrRetard;SyndrRetard;" EHMT1 "Gene:EHMT1&HGNC:24650&OMIM:607001&UserInfo:Kleefstra syndrome&UserType:SyndrRetard;" EIF2AK3 "Gene:EIF2AK3&HGNC:3255&OMIM:604032&UserInfo:Wolcott-Rallison syndrome&UserType:SyndrRetard;NonRetardButSyndr;" EIF4G1 Gene:EIF4G1&HGNC:3296&OMIM:600495&UserInfo:Parkinson disease 18&UserType: ELOVL4 "Gene:ELOVL4&HGNC:14415&OMIM:605512&UserInfo:?Spinocerebellar ataxia 34 ; Ichthyosis, spastic quadriplegia, and mental retardation ; Stargardt disease 3&UserType:Unexpected;SyndrRetard;NonRetardButSyndr;" EMX2 "Gene:EMX2&HGNC:3341&OMIM:600035&UserInfo:Schizencephaly&UserType:SyndrRetard;RetardPlusCerebAbnorm;" EP300 "Gene:EP300&HGNC:3373&OMIM:602700&UserInfo:Colorectal cancer, somatic ; Rubinstein-Taybi syndrome 2&UserType:NonSyndrRetard;SyndrRetard;" EPB41L1 "Gene:EPB41L1&HGNC:3378&OMIM:602879&UserInfo:?Mental retardation, autosomal dominant 11&UserType:NonSyndrRetard;" EPG5 "Gene:EPG5&HGNC:29331&OMIM:615068&UserInfo:Vici syndrome&UserType:SyndrRetard;RetardPlusCerebAbnorm;Cardiopathy;" ERCC2 "Gene:ERCC2&HGNC:3434&OMIM:126340&UserInfo:Cerebrooculofacioskeletal syndrome 2 ; Trichothiodystrophy 1, photosensitive ; Xeroderma pigmentosum, group D&UserType:SyndrRetard;" ERCC3 "Gene:ERCC3&HGNC:3435&OMIM:133510&UserInfo:Trichothiodystrophy 2, photosensitive ; Xeroderma pigmentosum, group B&UserType:SyndrRetard;" ERCC5 "Gene:ERCC5&HGNC:3437&OMIM:133530&UserInfo:Cerebrooculofacioskeletal syndrome 3 ; Xeroderma pigmentosum, group G ; Xeroderma pigmentosum, group G/Cockayne syndrome&UserType:SyndrRetard;" ERCC6 "Gene:ERCC6&HGNC:3438&OMIM:609413&UserInfo:Cerebrooculofacioskeletal syndrome 1 ; Cockayne syndrome, type B ; De Sanctis-Cacchione syndrome ; Premature ovarian failure 11 ; UV-sensitive syndrome 1 ; Lung cancer, susceptibility to ; Macular degeneration, age-related, susceptibility to 5&UserType:SyndrRetard;" ERCC8 "Gene:ERCC8&HGNC:3439&OMIM:609412&UserInfo:Cockayne syndrome, type A ; UV-sensitive syndrome 2&UserType:SyndrRetard;" ERLIN2 "Gene:ERLIN2&HGNC:1356&OMIM:611605&UserInfo:Spastic paraplegia 18, autosomal recessive&UserType:SyndrRetard;Neuro;" ESCO2 "Gene:ESCO2&HGNC:27230&OMIM:609353&UserInfo:Roberts syndrome ; SC phocomelia syndrome&UserType:SyndrRetard;" ETFB "Gene:ETFB&HGNC:3482&OMIM:130410&UserInfo:Glutaric acidemia IIB&UserType:Metabolism;" ETHE1 "Gene:ETHE1&HGNC:23287&OMIM:608451&UserInfo:Ethylmalonic encephalopathy&UserType:SyndrRetard;Encephalo;Metabolism;" EXOSC3 "Gene:EXOSC3&HGNC:17944&OMIM:606489&UserInfo:Pontocerebellar hypoplasia, type 1B&UserType:SyndrRetard;RetardPlusCerebAbnorm;" EZH2 "Gene:EZH2&HGNC:3527&OMIM:601573&UserInfo:Weaver syndrome&UserType:SyndrRetard;" FAM126A "Gene:FAM126A&HGNC:24587&OMIM:610531&UserInfo:Leukodystrophy, hypomyelinating, 5&UserType:SyndrRetard;Neuro;" FANCA "Gene:FANCA&HGNC:3582&OMIM:607139&UserInfo:Fanconi anemia, complementation group A&UserType:NonSyndrRetard;SyndrRetard;" FAT4 "Gene:FAT4&HGNC:23109&OMIM:612411&UserInfo:Hennekam lymphangiectasia-lymphedema syndrome 2 ; Van Maldergem syndrome 2&UserType:RetardPlusCerebAbnorm;" FBXO31 "Gene:FBXO31&HGNC:16510&OMIM:609102&UserInfo:?Mental retardation, autosomal recessive 45&UserType:SyndrRetard;" FGD1 "Gene:FGD1&HGNC:3663&OMIM:300546&UserInfo:Aarskog-Scott syndrome ; Mental retardation, X-linked syndromic 16&UserType:SyndrRetard;NonRetardButSyndr;" FGFR1 "Gene:FGFR1&HGNC:3688&OMIM:136350&UserInfo:Encephalocraniocutaneous lipomatosis ; Hartsfield syndrome ; Hypogonadotropic hypogonadism 2 with or without anosmia ; Jackson-Weiss syndrome ; Osteoglophonic dysplasia ; Pfeiffer syndrome ; Trigonocephaly 1&UserType:SyndrRetard;NonRetardButSyndr;" FGFR2 "Gene:FGFR2&HGNC:3689&OMIM:176943&UserInfo:Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis ; Apert syndrome ; Beare-Stevenson cutis gyrata syndrome ; Bent bone dysplasia syndrome ; Craniofacial-skeletal-dermatologic dysplasia ; Craniosynostosis, nonspecific ; Crouzon syndrome ; Gastric cancer, somatic ; Jackson-Weiss syndrome ; LADD syndrome ; Pfeiffer syndrome ; Saethre-Chotzen syndrome ; Scaphocephaly and Axenfeld-Rieger anomaly ; Scaphocephaly, maxillary retrusion, and mental retardation&UserType:SyndrRetard;NonRetardButSyndr;" FGFR3 "Gene:FGFR3&HGNC:3690&OMIM:134934&UserInfo:Achondroplasia ; Bladder cancer, somatic ; CATSHL syndrome ; Cervical cancer, somatic ; Colorectal cancer, somatic ; Crouzon syndrome with acanthosis nigricans ; Hypochondroplasia ; LADD syndrome ; Muenke syndrome ; Nevus, epidermal, somatic ; SADDAN ; Spermatocytic seminoma, somatic ; Thanatophoric dysplasia, type I ; Thanatophoric dysplasia, type II&UserType:SyndrRetard;NonRetardButSyndr;" FH "Gene:FH&HGNC:3700&OMIM:136850&UserInfo:Fumarase deficiency ; Leiomyomatosis and renal cell cancer&UserType:Encephalo;Metabolism;NonRetardButSyndr;" FIGN Gene:FIGN&HGNC:13285&OMIM:605295&UserInfo:No OMIM phenotype&UserType: FKRP "Gene:FKRP&HGNC:17997&OMIM:606596&UserInfo:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 ; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" FKTN "Gene:FKTN&HGNC:3622&OMIM:607440&UserInfo:Cardiomyopathy, dilated, 1X ; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 ; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4&UserType:SyndrRetard;RetardPlusCerebAbnorm;Cardiopathy;Neuro;" FLNA "Gene:FLNA&HGNC:3754&OMIM:300017&UserInfo:Cardiac valvular dysplasia, X-linked ; Congenital short bowel syndrome ; FG syndrome 2 ; Frontometaphyseal dysplasia ; Heterotopia, periventricular ; Heterotopia, periventricular, ED variant ; Intestinal pseudoobstruction, neuronal ; Melnick-Needles syndrome ; Otopalatodigital syndrome, type I ; Otopalatodigital syndrome, type II ; Terminal osseous dysplasia&UserType:SyndrRetard;NonRetardButSyndr;Cardiopathy;" FLVCR1 "Gene:FLVCR1&HGNC:24682&OMIM:609144&UserInfo:Ataxia, posterior column, with retinitis pigmentosa&UserType:NonRetardButSyndr;Neuro;" FMN2 "Gene:FMN2&HGNC:14074&OMIM:606373&UserInfo:Mental retardation, autosomal recessive 47&UserType:NonSyndrRetard;" FMR1 "Gene:FMR1&HGNC:3775&OMIM:309550&UserInfo:Fragile X syndrome ; Fragile X tremor/ataxia syndrome ; Premature ovarian failure 1&UserType:NonSyndrRetard;SyndrRetard;" FOXG1 "Gene:FOXG1&HGNC:3811&OMIM:164874&UserInfo:Rett syndrome, congenital variant&UserType:SyndrRetard;Encephalo;" FOXP1 "Gene:FOXP1&HGNC:3823&OMIM:605515&UserInfo:Mental retardation with language impairment and with or without autistic features&UserType:NonSyndrRetard;SyndrRetard;" FOXP2 "Gene:FOXP2&HGNC:13875&OMIM:605317&UserInfo:Speech-language disorder-1&UserType:NonSyndrRetard;SyndrRetard;" FRAS1 "Gene:FRAS1&HGNC:19185&OMIM:607830&UserInfo:Fraser syndrome&UserType:SyndrRetard;" FREM2 "Gene:FREM2&HGNC:25396&OMIM:608945&UserInfo:Fraser syndrome&UserType:SyndrRetard;" FRMD7 "Gene:FRMD7&HGNC:8079&OMIM:300628&UserInfo:Nystagmus 1, congenital, X-linked ; Nystagmus, infantile periodic alternating, X-linked&UserType:NonRetardButSyndr;" FTO "Gene:FTO&HGNC:24678&OMIM:610966&UserInfo:Growth retardation, developmental delay, facial dysmorphism ; Obesity, susceptibility to, BMIQ14&UserType:SyndrRetard;RetardPlusCerebAbnorm;NonRetardButSyndr;" FTSJ1 Gene:FTSJ1&HGNC:13254&OMIM:300499&UserInfo:Mental retardation, X-linked 9&UserType: FUCA1 "Gene:FUCA1&HGNC:4006&OMIM:612280&UserInfo:Fucosidosis&UserType:SyndrRetard;Metabolism;" GABRA1 "Gene:GABRA1&HGNC:4075&OMIM:137160&UserInfo:Epileptic encephalopathy, early infantile, 19 ; Epilepsy, childhood absence, susceptibility to, 4 ; Epilepsy, juvenile myoclonic, susceptibility to, 5&UserType:SyndrRetard;Encephalo;Neuro;" GABRB3 "Gene:GABRB3&HGNC:4083&OMIM:137192&UserInfo:Epilepsy, childhood absence, susceptibility to, 5&UserType:SyndrRetard;Encephalo;" GAD1 Gene:GAD1&HGNC:4092&OMIM:605363&UserInfo:?Cerebral palsy, spastic quadriplegic, 1&UserType: GALE "Gene:GALE&HGNC:4116&OMIM:606953&UserInfo:Galactose epimerase deficiency&UserType:Metabolism;" GALT "Gene:GALT&HGNC:4135&OMIM:606999&UserInfo:Galactosemia&UserType:Metabolism;" GAMT "Gene:GAMT&HGNC:4136&OMIM:601240&UserInfo:Cerebral creatine deficiency syndrome 2&UserType:NonSyndrRetard;Encephalo;Metabolism;" GATAD2B "Gene:GATAD2B&HGNC:30778&OMIM:614998&UserInfo:Mental retardation, autosomal dominant 18&UserType:NonSyndrRetard;SyndrRetard;" GATM "Gene:GATM&HGNC:4175&OMIM:602360&UserInfo:Cerebral creatine deficiency syndrome 3&UserType:NonSyndrRetard;Encephalo;Metabolism;" GCH1 "Gene:GCH1&HGNC:4193&OMIM:600225&UserInfo:Dystonia, DOPA-responsive, with or without hyperphenylalaninemia ; Hyperphenylalaninemia, BH4-deficient, B&UserType:SyndrRetard;Encephalo;Metabolism;Neuro;" GCSH "Gene:GCSH&HGNC:4208&OMIM:238330&UserInfo:Glycine encephalopathy&UserType:SyndrRetard;Encephalo;Metabolism;" GDI1 "Gene:GDI1&HGNC:4226&OMIM:300104&UserInfo:Mental retardation, X-linked 41&UserType:NonSyndrRetard;" GFAP "Gene:GFAP&HGNC:4235&OMIM:137780&UserInfo:Alexander disease&UserType:SyndrRetard;RetardPlusCerebAbnorm;Metabolism;Neuro;" GJC2 "Gene:GJC2&HGNC:17494&OMIM:608803&UserInfo:Leukodystrophy, hypomyelinating, 2 ; Lymphedema, hereditary, IC ; Spastic paraplegia 44, autosomal recessive&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" GK "Gene:GK&HGNC:4289&OMIM:300474&UserInfo:Glycerol kinase deficiency&UserType:Metabolism;" GLB1 "Gene:GLB1&HGNC:4298&OMIM:611458&UserInfo:GM1-gangliosidosis, type I ; GM1-gangliosidosis, type II ; GM1-gangliosidosis, type III ; Mucopolysaccharidosis type IVB (Morquio)&UserType:SyndrRetard;Encephalo;Metabolism;" GLDC "Gene:GLDC&HGNC:4313&OMIM:238300&UserInfo:Glycine encephalopathy&UserType:Encephalo;Metabolism;" GLI2 "Gene:GLI2&HGNC:4318&OMIM:165230&UserInfo:Culler-Jones syndrome ; Holoprosencephaly 9&UserType:SyndrRetard;RetardPlusCerebAbnorm;" GLI3 "Gene:GLI3&HGNC:4319&OMIM:165240&UserInfo:Greig cephalopolysyndactyly syndrome ; Pallister-Hall syndrome ; Polydactyly, postaxial, types A1 and B ; Polydactyly, preaxial, type IV ; Hypothalamic hamartomas, somatic&UserType:SyndrRetard;RetardPlusCerebAbnorm;" GM2A "Gene:GM2A&HGNC:4367&OMIM:613109&UserInfo:GM2-gangliosidosis, AB variant&UserType:Encephalo;Metabolism;" GMNN "Gene:GMNN&HGNC:17493&OMIM:602842&UserInfo:Meier-Gorlin syndrome 6&UserType:SyndrRetard;" GMPPA "Gene:GMPPA&HGNC:22923&OMIM:615495&UserInfo:Alacrima, achalasia, and mental retardation syndrome&UserType:SyndrRetard;" GMPPB "Gene:GMPPB&HGNC:22932&OMIM:615320&UserInfo:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 ; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" GNAI3 "Gene:GNAI3&HGNC:4387&OMIM:139370&UserInfo:Auriculocondylar syndrome 1&UserType:SyndrRetard;NonRetardButSyndr;" GNAO1 "Gene:GNAO1&HGNC:4389&OMIM:139311&UserInfo:Epileptic encephalopathy, early infantile, 17&UserType:RetardPlusCerebAbnorm;Encephalo;" GNPAT "Gene:GNPAT&HGNC:4416&OMIM:602744&UserInfo:Rhizomelic chondrodysplasia punctata, type 2&UserType:SyndrRetard;Metabolism;" GNS "Gene:GNS&HGNC:4422&OMIM:607664&UserInfo:Mucopolysaccharidosis type IIID&UserType:SyndrRetard;Metabolism;" GPC3 "Gene:GPC3&HGNC:4451&OMIM:300037&UserInfo:Simpson-Golabi-Behmel syndrome, type 1 ; Wilms tumor, somatic&UserType:SyndrRetard;" GPC4 "Gene:GPC4&HGNC:4452&OMIM:300168&UserInfo:No OMIM phenotype&UserType:SyndrRetard;" GPHN "Gene:GPHN&HGNC:15465&OMIM:603930&UserInfo:Molybdenum cofactor deficiency C&UserType:RetardPlusCerebAbnorm;Encephalo;Metabolism;" GPSM2 "Gene:GPSM2&HGNC:29501&OMIM:609245&UserInfo:Chudley-McCullough syndrome&UserType:SyndrRetard;NonRetardButSyndr;" GPT2 "Gene:GPT2&HGNC:18062&OMIM:138210&UserInfo:?Mental retardation, autosomal recessive 49&UserType:Encephalo;" GRIA3 "Gene:GRIA3&HGNC:4573&OMIM:305915&UserInfo:Mental retardation, X-linked 94&UserType:NonSyndrRetard;SyndrRetard;" GRID2 "Gene:GRID2&HGNC:4576&OMIM:602368&UserInfo:Spinocerebellar ataxia, autosomal recessive 18&UserType:SyndrRetard;Neuro;" GRIK2 "Gene:GRIK2&HGNC:4580&OMIM:138244&UserInfo:Mental retardation, autosomal recessive, 6&UserType:NonSyndrRetard;SyndrRetard;Neuro;" GRIN1 "Gene:GRIN1&HGNC:4584&OMIM:138249&UserInfo:Mental retardation, autosomal dominant 8&UserType:NonSyndrRetard;" GRIN2A "Gene:GRIN2A&HGNC:4585&OMIM:138253&UserInfo:Epilepsy, focal, with speech disorder and with or without mental retardation&UserType:SyndrRetard;Neuro;" GRIN2B "Gene:GRIN2B&HGNC:4586&OMIM:138252&UserInfo:Epileptic encephalopathy, early infantile, 27 ; Mental retardation, autosomal dominant 6&UserType:NonSyndrRetard;SyndrRetard;Encephalo;" GRIN3B Gene:GRIN3B&HGNC:16768&OMIM:606651&UserInfo:No OMIM phenotype&UserType: GRM1 "Gene:GRM1&HGNC:4593&OMIM:604473&UserInfo:Spinocerebellar ataxia, autosomal recessive 13&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" GSE1 Gene:GSE1&HGNC:28979&OMIM:616886&UserInfo:No OMIM phenotype&UserType: GSPT2 "Gene:GSPT2&HGNC:4622&OMIM:300418&UserInfo:No OMIM phenotype&UserType:NonSyndrRetard;" GSS "Gene:GSS&HGNC:4624&OMIM:601002&UserInfo:Glutathione synthetase deficiency ; Hemolytic anemia due to glutathione synthetase deficiency&UserType:Metabolism;" GTF2H5 "Gene:GTF2H5&HGNC:21157&OMIM:608780&UserInfo:Trichothiodystrophy 3, photosensitive&UserType:SyndrRetard;" GUSB "Gene:GUSB&HGNC:4696&OMIM:611499&UserInfo:Mucopolysaccharidosis VII&UserType:SyndrRetard;Metabolism;" HACE1 "Gene:HACE1&HGNC:21033&OMIM:610876&UserInfo:Spastic paraplegia and psychomotor retardation with or without seizures&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" HAX1 "Gene:HAX1&HGNC:16915&OMIM:605998&UserInfo:Neutropenia, severe congenital 3, autosomal recessive&UserType:SyndrRetard;NonRetardButSyndr;" HCCS Gene:HCCS&HGNC:4837&OMIM:300056&UserInfo:Linear skin defects with multiple congenital anomalies 1&UserType: HCFC1 "Gene:HCFC1&HGNC:4839&OMIM:300019&UserInfo:Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;" HCN1 "Gene:HCN1&HGNC:4845&OMIM:602780&UserInfo:Epileptic encephalopathy, early infantile, 24&UserType:SyndrRetard;NonRetardButSyndr;Cardiopathy;" HDAC4 Gene:HDAC4&HGNC:14063&OMIM:605314&UserInfo:No OMIM phenotype&UserType: HDAC6 "Gene:HDAC6&HGNC:14064&OMIM:300272&UserInfo:?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia&UserType:SyndrRetard;" HDAC8 "Gene:HDAC8&HGNC:13315&OMIM:300269&UserInfo:Cornelia de Lange syndrome 5&UserType:NonSyndrRetard;SyndrRetard;" HECTD1 Gene:HECTD1&HGNC:20157&OMIM:No OMIM&UserInfo:No OMIM phenotype&UserType: HERC1 "Gene:HERC1&HGNC:4867&OMIM:605109&UserInfo:Macrocephaly, dysmorphic facies, and psychomotor retardation&UserType:SyndrRetard;" HERC2 "Gene:HERC2&HGNC:4868&OMIM:605837&UserInfo:Mental retardation, autosomal recessive 38 ; [Skin/hair/eye pigmentation 1, blond/brown hair] ; [Skin/hair/eye pigmentation 1, blue/nonblue eyes]&UserType:NonSyndrRetard;SyndrRetard;RetardPlusCerebAbnorm;" HEXA "Gene:HEXA&HGNC:4878&OMIM:606869&UserInfo:GM2-gangliosidosis, several forms ; Tay-Sachs disease ; [Hex A pseudodeficiency]&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;" HEXB "Gene:HEXB&HGNC:4879&OMIM:606873&UserInfo:Sandhoff disease, infantile, juvenile, and adult forms&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;" HIVEP2 "Gene:HIVEP2&HGNC:4921&OMIM:143054&UserInfo:Mental retardation, autosomal dominant 43&UserType:NonSyndrRetard;SyndrRetard;" HLCS "Gene:HLCS&HGNC:4976&OMIM:609018&UserInfo:Holocarboxylase synthetase deficiency&UserType:NonSyndrRetard;Encephalo;Metabolism;" HNMT "Gene:HNMT&HGNC:5028&OMIM:605238&UserInfo:Mental retardation, autosomal recessive 51 ; Asthma, susceptibility to&UserType:NonSyndrRetard;" HNRNPK "Gene:HNRNPK&HGNC:5044&OMIM:600712&UserInfo:Au-Kline syndrome&UserType:SyndrRetard;RetardPlusCerebAbnorm;" HOXA1 "Gene:HOXA1&HGNC:5099&OMIM:142955&UserInfo:Athabaskan brainstem dysgenesis syndrome ; Bosley-Salih-Alorainy syndrome&UserType:SyndrRetard;Neuro;" HPD "Gene:HPD&HGNC:5147&OMIM:609695&UserInfo:Hawkinsinuria ; Tyrosinemia, type III&UserType:NonSyndrRetard;Metabolism;" HPRT1 "Gene:HPRT1&HGNC:5157&OMIM:308000&UserInfo:HPRT-related gout ; Lesch-Nyhan syndrome&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;NonRetardButSyndr;" HRAS "Gene:HRAS&HGNC:5173&OMIM:190020&UserInfo:Congenital myopathy with excess of muscle spindles ; Costello syndrome ; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic ; Bladder cancer, somatic ; Nevus sebaceous or woolly hair nevus, somatic ; Spitz nevus or nevus spilus, somatic ; Thyroid carcinoma, follicular, somatic&UserType:SyndrRetard;Cardiopathy;" HSD17B10 "Gene:HSD17B10&HGNC:4800&OMIM:300256&UserInfo:17-beta-hydroxysteroid dehydrogenase X deficiency ; ?Mental retardation, X-linked syndromic 10&UserType:SyndrRetard;Metabolism;Neuro;" HSPD1 "Gene:HSPD1&HGNC:5261&OMIM:118190&UserInfo:Leukodystrophy, hypomyelinating, 4 ; Spastic paraplegia 13, autosomal dominant&UserType:SyndrRetard;Neuro;" HSPG2 "Gene:HSPG2&HGNC:5273&OMIM:142461&UserInfo:Dyssegmental dysplasia, Silverman-Handmaker type ; Schwartz-Jampel syndrome, type 1&UserType:NonRetardButSyndr;Neuro;" HUWE1 "Gene:HUWE1&HGNC:30892&OMIM:300697&UserInfo:Mental retardation, X-linked syndromic, Turner type&UserType:NonSyndrRetard;SyndrRetard;" IDS "Gene:IDS&HGNC:5389&OMIM:300823&UserInfo:Mucopolysaccharidosis II&UserType:SyndrRetard;Metabolism;" IDUA "Gene:IDUA&HGNC:5391&OMIM:252800&UserInfo:Mucopolysaccharidosis Ih ; Mucopolysaccharidosis Ih/s ; Mucopolysaccharidosis Is&UserType:SyndrRetard;Metabolism;" IER3IP1 "Gene:IER3IP1&HGNC:18550&OMIM:609382&UserInfo:Microcephaly, epilepsy, and diabetes syndrome&UserType:SyndrRetard;Encephalo;" IFT172 "Gene:IFT172&HGNC:30391&OMIM:607386&UserInfo:Retinitis pigmentosa 71 ; Short-rib thoracic dysplasia 10 with or without polydactyly&UserType:SyndrRetard;NonRetardButSyndr;" IGBP1 "Gene:IGBP1&HGNC:5461&OMIM:300139&UserInfo:Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia&UserType:SyndrRetard;RetardPlusCerebAbnorm;" IGF1 "Gene:IGF1&HGNC:5464&OMIM:147440&UserInfo:Growth retardation with deafness and mental retardation due to IGF1 deficiency&UserType:SyndrRetard;NonRetardButSyndr;" IGF1R "Gene:IGF1R&HGNC:5465&OMIM:147370&UserInfo:Insulin-like growth factor I, resistance to&UserType:SyndrRetard;RetardPlusCerebAbnorm;" IKBKG "Gene:IKBKG&HGNC:5961&OMIM:300248&UserInfo:Ectodermal dysplasia, hypohidrotic, with immune deficiency ; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency ; Immunodeficiency 33 ; Immunodeficiency, isolated ; Incontinentia pigmenti ; Invasive pneumococcal disease, recurrent isolated, 2&UserType:SyndrRetard;NonRetardButSyndr;" IL1RAPL1 "Gene:IL1RAPL1&HGNC:5996&OMIM:300206&UserInfo:Mental retardation, X-linked 21/34&UserType:NonSyndrRetard;" INPP5E "Gene:INPP5E&HGNC:21474&OMIM:613037&UserInfo:Joubert syndrome 1 ; Mental retardation, truncal obesity, retinal dystrophy, and micropenis&UserType:SyndrRetard;RetardPlusCerebAbnorm;" IQSEC2 "Gene:IQSEC2&HGNC:29059&OMIM:300522&UserInfo:Mental retardation, X-linked 1/78&UserType:NonSyndrRetard;SyndrRetard;" ISPD "Gene:ISPD&HGNC:37276&OMIM:614631&UserInfo:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" ITPR1 "Gene:ITPR1&HGNC:6180&OMIM:147265&UserInfo:Gillespie syndrome ; Spinocerebellar ataxia 15 ; Spinocerebellar ataxia 29, congenital nonprogressive&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" IVD "Gene:IVD&HGNC:6186&OMIM:607036&UserInfo:Isovaleric acidemia&UserType:NonSyndrRetard;Metabolism;" JAG1 "Gene:JAG1&HGNC:6188&OMIM:601920&UserInfo:?Deafness, congenital heart defects, and posterior embryotoxon ; Alagille syndrome ; Tetralogy of Fallot&UserType:SyndrRetard;NonRetardButSyndr;" JAM3 "Gene:JAM3&HGNC:15532&OMIM:606871&UserInfo:Hemorrhagic destruction of the brain, subependymal calcification, and cataracts&UserType:SyndrRetard;" KANSL1 "Gene:KANSL1&HGNC:24565&OMIM:612452&UserInfo:Koolen-De Vries syndrome&UserType:NonSyndrRetard;SyndrRetard;" KAT6A "Gene:KAT6A&HGNC:13013&OMIM:601408&UserInfo:Mental retardation, autosomal dominant 32&UserType:NonSyndrRetard;SyndrRetard;" KAT6B "Gene:KAT6B&HGNC:17582&OMIM:605880&UserInfo:Genitopatellar syndrome ; SBBYSS syndrome&UserType:SyndrRetard;" KCNC3 "Gene:KCNC3&HGNC:6235&OMIM:176264&UserInfo:Spinocerebellar ataxia 13&UserType:SyndrRetard;Neuro;" KCNH1 "Gene:KCNH1&HGNC:6250&OMIM:603305&UserInfo:Temple-Baraitser syndrome ; Zimmermann-Laband syndrome 1&UserType:" KCNJ10 "Gene:KCNJ10&HGNC:6256&OMIM:602208&UserInfo:Enlarged vestibular aqueduct, digenic ; SESAME syndrome&UserType:SyndrRetard;Neuro;" KCNJ11 "Gene:KCNJ11&HGNC:6257&OMIM:600937&UserInfo:Diabetes mellitus, permanent neonatal, with neurologic features ; Diabetes mellitus, transient neonatal, 3 ; Diabetes, permanent neonatal ; Hyperinsulinemic hypoglycemia, familial, 2 ; Maturity-onset diabetes of the young, type 13 ; Diabetes mellitus, type 2, susceptibility to&UserType:SyndrRetard;Encephalo;NonRetardButSyndr;" KCNK9 "Gene:KCNK9&HGNC:6283&OMIM:605874&UserInfo:Birk-Barel mental retardation dysmorphism syndrome&UserType:SyndrRetard;" KCNQ2 "Gene:KCNQ2&HGNC:6296&OMIM:602235&UserInfo:Epileptic encephalopathy, early infantile, 7 ; Myokymia ; Seizures, benign neonatal, 1&UserType:SyndrRetard;Encephalo;Neuro;" KCNQ5 Gene:KCNQ5&HGNC:6299&OMIM:607357&UserInfo:No OMIM phenotype&UserType: KCNT1 "Gene:KCNT1&HGNC:18865&OMIM:608167&UserInfo:Epilepsy, nocturnal frontal lobe, 5 ; Epileptic encephalopathy, early infantile, 14&UserType:SyndrRetard;Encephalo;Neuro;" KCTD7 "Gene:KCTD7&HGNC:21957&OMIM:611725&UserInfo:Epilepsy, progressive myoclonic 3, with or without intracellular inclusions&UserType:SyndrRetard;Encephalo;Metabolism;" KDM1A "Gene:KDM1A&HGNC:29079&OMIM:609132&UserInfo:Cleft palate, psychomotor retardation, and distinctive facial features&UserType:SyndrRetard;RetardPlusCerebAbnorm;" KDM5C "Gene:KDM5C&HGNC:11114&OMIM:314690&UserInfo:Mental retardation, X-linked, syndromic, Claes-Jensen type&UserType:NonSyndrRetard;SyndrRetard;" KDM6A "Gene:KDM6A&HGNC:12637&OMIM:300128&UserInfo:Kabuki syndrome 2&UserType:SyndrRetard;" KIAA0586 "Gene:KIAA0586&HGNC:19960&OMIM:610178&UserInfo:Joubert syndrome 23 ; Short-rib thoracic dysplasia 14 with polydactyly&UserType:NonSyndrRetard;SyndrRetard;" KIAA1033 "Gene:KIAA1033&HGNC:29174&OMIM:615748&UserInfo:?Mental retardation, autosomal recessive 43&UserType:NonSyndrRetard;" KIAA1109 Gene:KIAA1109&HGNC:26953&OMIM:611565&UserInfo:No OMIM phenotype&UserType: KIAA2022 "Gene:KIAA2022&HGNC:29433&OMIM:300524&UserInfo:Mental retardation, X-linked 98&UserType:NonSyndrRetard;SyndrRetard;" KIF11 "Gene:KIF11&HGNC:6388&OMIM:148760&UserInfo:Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation&UserType:NonSyndrRetard;SyndrRetard;NonRetardButSyndr;" KIF1A "Gene:KIF1A&HGNC:888&OMIM:601255&UserInfo:Mental retardation, autosomal dominant 9 ; Neuropathy, hereditary sensory, type IIC ; Spastic paraplegia 30, autosomal recessive&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" KIF1BP "Gene:KIF1BP&HGNC:23419&OMIM:609367&UserInfo:Goldberg-Shprintzen megacolon syndrome&UserType:SyndrRetard;RetardPlusCerebAbnorm;" KIF4A "Gene:KIF4A&HGNC:13339&OMIM:300521&UserInfo:?Mental retardation, X-linked 100&UserType:NonSyndrRetard;SyndrRetard;" KIF5C "Gene:KIF5C&HGNC:6325&OMIM:604593&UserInfo:Cortical dysplasia, complex, with other brain malformations 2&UserType:SyndrRetard;RetardPlusCerebAbnorm;" KIF7 "Gene:KIF7&HGNC:30497&OMIM:611254&UserInfo:?Al-Gazali-Bakalinova syndrome ; ?Hydrolethalus syndrome 2 ; Acrocallosal syndrome ; Joubert syndrome 12&UserType:SyndrRetard;RetardPlusCerebAbnorm;" KIRREL3 "Gene:KIRREL3&HGNC:23204&OMIM:607761&UserInfo:Mental retardation, autosomal dominant 4&UserType:NonSyndrRetard;SyndrRetard;" KMT2A "Gene:KMT2A&HGNC:7132&OMIM:159555&UserInfo:Leukemia, myeloid/lymphoid or mixed-lineage ; Wiedemann-Steiner syndrome&UserType:SyndrRetard;" KMT2D "Gene:KMT2D&HGNC:7133&OMIM:602113&UserInfo:Kabuki syndrome 1&UserType:SyndrRetard;" KNL1 "Gene:KNL1&HGNC:24054&OMIM:609173&UserInfo:Microcephaly 4, primary, autosomal recessive&UserType:SyndrRetard;" KPTN "Gene:KPTN&HGNC:6404&OMIM:615620&UserInfo:Mental retardation, autosomal recessive 41&UserType:SyndrRetard;" KRAS "Gene:KRAS&HGNC:6407&OMIM:190070&UserInfo:Bladder cancer, somatic ; Breast cancer, somatic ; Cardiofaciocutaneous syndrome 2 ; Gastric cancer, somatic ; Leukemia, acute myeloid ; Lung cancer, somatic ; Noonan syndrome 3 ; Pancreatic carcinoma, somatic ; RAS-associated autoimmune leukoproliferative disorder ; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic&UserType:SyndrRetard;" KRBOX4 Gene:KRBOX4&HGNC:26007&OMIM:300585&UserInfo:No OMIM phenotype&UserType: L1CAM "Gene:L1CAM&HGNC:6470&OMIM:308840&UserInfo:Corpus callosum, partial agenesis of ; CRASH syndrome ; Hydrocephalus due to aqueductal stenosis ; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction ; Hydrocephalus with Hirschsprung disease ; MASA syndrome&UserType:SyndrRetard;RetardPlusCerebAbnorm;" L2HGDH "Gene:L2HGDH&HGNC:20499&OMIM:609584&UserInfo:L-2-hydroxyglutaric aciduria&UserType:NonSyndrRetard;RetardPlusCerebAbnorm;Encephalo;Metabolism;" LAMA1 "Gene:LAMA1&HGNC:6481&OMIM:150320&UserInfo:Poretti-Boltshauser syndrome&UserType:SyndrRetard;RetardPlusCerebAbnorm;" LAMA2 "Gene:LAMA2&HGNC:6482&OMIM:156225&UserInfo:Muscular dystrophy, congenital merosin-deficient ; Muscular dystrophy, congenital, due to partial LAMA2 deficiency&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" LAMC3 "Gene:LAMC3&HGNC:6494&OMIM:604349&UserInfo:Cortical malformations, occipital&UserType:SyndrRetard;RetardPlusCerebAbnorm;NonRetardButSyndr;" LAMP2 "Gene:LAMP2&HGNC:6501&OMIM:309060&UserInfo:Danon disease&UserType:SyndrRetard;Cardiopathy;Neuro;" LARGE1 "Gene:LARGE1&HGNC:6511&OMIM:603590&UserInfo:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 ; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" LARP7 "Gene:LARP7&HGNC:24912&OMIM:612026&UserInfo:Alazami syndrome&UserType:SyndrRetard;" LIG4 "Gene:LIG4&HGNC:6601&OMIM:601837&UserInfo:LIG4 syndrome ; Multiple myeloma, resistance to&UserType:SyndrRetard;" LINS1 "Gene:LINS1&HGNC:30922&OMIM:610350&UserInfo:Mental retardation, autosomal recessive 27&UserType:NonSyndrRetard;SyndrRetard;" LMBRD1 "Gene:LMBRD1&HGNC:23038&OMIM:612625&UserInfo:Methylmalonic aciduria and homocystinuria, cblF type&UserType:NonSyndrRetard;SyndrRetard;Metabolism;" LMNA "Gene:LMNA&HGNC:6636&OMIM:150330&UserInfo:Cardiomyopathy, dilated, 1A ; Charcot-Marie-Tooth disease, type 2B1 ; Emery-Dreifuss muscular dystrophy 2, AD ; Emery-Dreifuss muscular dystrophy 3, AR ; Heart-hand syndrome, Slovenian type ; Hutchinson-Gilford progeria ; Lipodystrophy, familial partial, type 2 ; Malouf syndrome ; Mandibuloacral dysplasia ; Muscular dystrophy, congenital ; Muscular dystrophy, limb-girdle, type 1B ; Restrictive dermopathy, lethal&UserType:SyndrRetard;NonRetardButSyndr;" LRP2 "Gene:LRP2&HGNC:6694&OMIM:600073&UserInfo:Donnai-Barrow syndrome&UserType:SyndrRetard;NonRetardButSyndr;" LRPPRC "Gene:LRPPRC&HGNC:15714&OMIM:607544&UserInfo:Leigh syndrome, French-Canadian type&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;" MAGEL2 "Gene:MAGEL2&HGNC:6814&OMIM:605283&UserInfo:Schaaf-Yang syndrome&UserType:SyndrRetard;" MAN1B1 "Gene:MAN1B1&HGNC:6823&OMIM:604346&UserInfo:Mental retardation, autosomal recessive 15&UserType:NonSyndrRetard;SyndrRetard;" MAN2B1 "Gene:MAN2B1&HGNC:6826&OMIM:609458&UserInfo:Mannosidosis, alpha-, types I and II&UserType:NonSyndrRetard;SyndrRetard;Metabolism;" MANBA "Gene:MANBA&HGNC:6831&OMIM:609489&UserInfo:Mannosidosis, beta&UserType:NonSyndrRetard;SyndrRetard;Metabolism;" MAOA "Gene:MAOA&HGNC:6833&OMIM:309850&UserInfo:Brunner syndrome ; Antisocial behavior&UserType:SyndrRetard;" MAP2K1 "Gene:MAP2K1&HGNC:6840&OMIM:176872&UserInfo:Cardiofaciocutaneous syndrome 3&UserType:SyndrRetard;" MAP2K2 "Gene:MAP2K2&HGNC:6842&OMIM:601263&UserInfo:Cardiofaciocutaneous syndrome 4&UserType:SyndrRetard;" MBD5 "Gene:MBD5&HGNC:20444&OMIM:611472&UserInfo:Mental retardation, autosomal dominant 1&UserType:NonSyndrRetard;SyndrRetard;Encephalo;" MCCC1 "Gene:MCCC1&HGNC:6936&OMIM:609010&UserInfo:3-Methylcrotonyl-CoA carboxylase 1 deficiency&UserType:NonSyndrRetard;Metabolism;" MCCC2 "Gene:MCCC2&HGNC:6937&OMIM:609014&UserInfo:3-Methylcrotonyl-CoA carboxylase 2 deficiency&UserType:NonSyndrRetard;Metabolism;" MCOLN1 "Gene:MCOLN1&HGNC:13356&OMIM:605248&UserInfo:Mucolipidosis IV&UserType:SyndrRetard;Encephalo;Metabolism;" MCPH1 "Gene:MCPH1&HGNC:6954&OMIM:607117&UserInfo:Microcephaly 1, primary, autosomal recessive&UserType:SyndrRetard;" MECP2 "Gene:MECP2&HGNC:6990&OMIM:300005&UserInfo:Encephalopathy, neonatal severe ; Mental retardation, X-linked syndromic, Lubs type ; Mental retardation, X-linked, syndromic 13 ; Rett syndrome ; Rett syndrome, atypical ; Rett syndrome, preserved speech variant ; Autism susceptibility, X-linked 3&UserType:SyndrRetard;Encephalo;" MED12 "Gene:MED12&HGNC:11957&OMIM:300188&UserInfo:Lujan-Fryns syndrome ; Ohdo syndrome, X-linked ; Opitz-Kaveggia syndrome&UserType:SyndrRetard;" MED13L "Gene:MED13L&HGNC:22962&OMIM:608771&UserInfo:Mental retardation and distinctive facial features with or without cardiac defects ; Transposition of the great arteries, dextro-looped 1&UserType:SyndrRetard;" MED17 "Gene:MED17&HGNC:2375&OMIM:603810&UserInfo:Microcephaly, postnatal progressive, with seizures and brain atrophy&UserType:SyndrRetard;RetardPlusCerebAbnorm;" MED23 "Gene:MED23&HGNC:2372&OMIM:605042&UserInfo:Mental retardation, autosomal recessive 18&UserType:NonSyndrRetard;" MEF2C "Gene:MEF2C&HGNC:6996&OMIM:600662&UserInfo:Chromosome 5q14.3 deletion syndrome ; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations&UserType:SyndrRetard;RetardPlusCerebAbnorm;Encephalo;" METTL23 "Gene:METTL23&HGNC:26988&OMIM:615262&UserInfo:Mental retardation, autosomal recessive 44&UserType:NonSyndrRetard;SyndrRetard;" MGAT2 "Gene:MGAT2&HGNC:7045&OMIM:602616&UserInfo:Congenital disorder of glycosylation, type IIa&UserType:NonSyndrRetard;SyndrRetard;Metabolism;" MID1 "Gene:MID1&HGNC:7095&OMIM:300552&UserInfo:Opitz GBBB syndrome, type I&UserType:SyndrRetard;NonRetardButSyndr;" MID2 "Gene:MID2&HGNC:7096&OMIM:300204&UserInfo:?Mental retardation, X-linked 101&UserType:NonSyndrRetard;" MKKS "Gene:MKKS&HGNC:7108&OMIM:604896&UserInfo:Bardet-Biedl syndrome 6 ; McKusick-Kaufman syndrome&UserType:SyndrRetard;NonRetardButSyndr;" MLYCD "Gene:MLYCD&HGNC:7150&OMIM:606761&UserInfo:Malonyl-CoA decarboxylase deficiency&UserType:NonSyndrRetard;SyndrRetard;Metabolism;" MMAA "Gene:MMAA&HGNC:18871&OMIM:607481&UserInfo:Methylmalonic aciduria, vitamin B12-responsive&UserType:NonSyndrRetard;Metabolism;" MMACHC "Gene:MMACHC&HGNC:24525&OMIM:609831&UserInfo:Methylmalonic aciduria and homocystinuria, cblC type&UserType:NonSyndrRetard;Metabolism;" MMADHC "Gene:MMADHC&HGNC:25221&OMIM:611935&UserInfo:Homocystinuria, cblD type, variant 1 ; Methylmalonic aciduria and homocystinuria, cblD type ; Methylmalonic aciduria, cblD type, variant 2&UserType:NonSyndrRetard;Metabolism;" MMP21 "Gene:MMP21&HGNC:14357&OMIM:608416&UserInfo:Heterotaxy, visceral, 7, autosomal&UserType:NonSyndrRetard;SyndrRetard;" MOCS1 "Gene:MOCS1&HGNC:7190&OMIM:603707&UserInfo:Molybdenum cofactor deficiency A&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;" MOCS2 "Gene:MOCS2&HGNC:7193&OMIM:603708&UserInfo:Molybdenum cofactor deficiency B&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;" MOGS "Gene:MOGS&HGNC:24862&OMIM:601336&UserInfo:Congenital disorder of glycosylation, type IIb&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;" MPDU1 "Gene:MPDU1&HGNC:7207&OMIM:604041&UserInfo:Congenital disorder of glycosylation, type If&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;" MPDZ "Gene:MPDZ&HGNC:7208&OMIM:603785&UserInfo:Hydrocephalus, nonsyndromic, autosomal recessive 2&UserType:SyndrRetard;RetardPlusCerebAbnorm;" MPLKIP "Gene:MPLKIP&HGNC:16002&OMIM:609188&UserInfo:Trichothiodystrophy 4, nonphotosensitive&UserType:SyndrRetard;" MRPS22 "Gene:MRPS22&HGNC:14508&OMIM:605810&UserInfo:Combined oxidative phosphorylation deficiency 5&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;" MTHFR "Gene:MTHFR&HGNC:7436&OMIM:607093&UserInfo:Homocystinuria due to MTHFR deficiency ; Neural tube defects, susceptibility to ; Schizophrenia, susceptibility to ; Thromboembolism, susceptibility to ; Vascular disease, susceptibility to&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;" MTOR "Gene:MTOR&HGNC:3942&OMIM:601231&UserInfo:Smith-Kingsmore syndrome&UserType:SyndrRetard;RetardPlusCerebAbnorm;Encephalo;" MTR "Gene:MTR&HGNC:7468&OMIM:156570&UserInfo:Homocystinuria-megaloblastic anemia, cblG complementation type ; Neural tube defects, folate-sensitive, susceptibility to&UserType:NonSyndrRetard;SyndrRetard;Metabolism;" MTRR "Gene:MTRR&HGNC:7473&OMIM:602568&UserInfo:Homocystinuria-megaloblastic anemia, cbl E type ; Neural tube defects, folate-sensitive, susceptibility to&UserType:NonSyndrRetard;SyndrRetard;Metabolism;" MUT "Gene:MUT&HGNC:7526&OMIM:609058&UserInfo:Methylmalonic aciduria, mut(0) type&UserType:NonSyndrRetard;Metabolism;" MVK "Gene:MVK&HGNC:7530&OMIM:251170&UserInfo:Hyper-IgD syndrome ; Mevalonic aciduria ; Porokeratosis 3, multiple types&UserType:SyndrRetard;Encephalo;Metabolism;" MYCN "Gene:MYCN&HGNC:7559&OMIM:164840&UserInfo:Feingold syndrome&UserType:SyndrRetard;" MYH9 "Gene:MYH9&HGNC:7579&OMIM:160775&UserInfo:Deafness, autosomal dominant 17 ; Epstein syndrome ; Fechtner syndrome ; Macrothrombocytopenia and progressive sensorineural deafness ; May-Hegglin anomaly ; Sebastian syndrome&UserType:NonRetardButSyndr;" MYO5A "Gene:MYO5A&HGNC:7602&OMIM:160777&UserInfo:Griscelli syndrome, type 1&UserType:SyndrRetard;" MYT1L "Gene:MYT1L&HGNC:7623&OMIM:613084&UserInfo:Mental retardation, autosomal dominant 39&UserType:NonSyndrRetard;SyndrRetard;" NAA10 "Gene:NAA10&HGNC:18704&OMIM:300013&UserInfo:?Microphthalmia, syndromic 1 ; Ogden syndrome&UserType:NonSyndrRetard;SyndrRetard;" NAGA "Gene:NAGA&HGNC:7631&OMIM:104170&UserInfo:Kanzaki disease ; Schindler disease, type I ; Schindler disease, type III&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;" NAGLU "Gene:NAGLU&HGNC:7632&OMIM:609701&UserInfo:?Charcot-Marie-Tooth disease, axonal, type 2V ; Mucopolysaccharidosis type IIIB (Sanfilippo B)&UserType:NonSyndrRetard;SyndrRetard;Metabolism;" NALCN "Gene:NALCN&HGNC:19082&OMIM:611549&UserInfo:Congenital contractures of the limbs and face, hypotonia, and developmental delay ; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1&UserType:SyndrRetard;" NBN "Gene:NBN&HGNC:7652&OMIM:602667&UserInfo:Aplastic anemia ; Leukemia, acute lymphoblastic ; Nijmegen breakage syndrome&UserType:SyndrRetard;" NDE1 "Gene:NDE1&HGNC:17619&OMIM:609449&UserInfo:?Microhydranencephaly ; Lissencephaly 4 (with microcephaly)&UserType:SyndrRetard;RetardPlusCerebAbnorm;Encephalo;" NDP "Gene:NDP&HGNC:7678&OMIM:300658&UserInfo:Exudative vitreoretinopathy 2, X-linked ; Norrie disease&UserType:SyndrRetard;" NDST1 "Gene:NDST1&HGNC:7680&OMIM:600853&UserInfo:Mental retardation, autosomal recessive 46&UserType:NonSyndrRetard;" NDUFA1 "Gene:NDUFA1&HGNC:7683&OMIM:300078&UserInfo:Mitochondrial complex I deficiency&UserType:NonSyndrRetard;Encephalo;Metabolism;" NDUFA11 "Gene:NDUFA11&HGNC:20371&OMIM:612638&UserInfo:Mitochondrial complex I deficiency&UserType:NonSyndrRetard;Encephalo;Metabolism;" NDUFA12 "Gene:NDUFA12&HGNC:23987&OMIM:614530&UserInfo:Leigh syndrome due to mitochondrial complex 1 deficiency&UserType:NonSyndrRetard;Encephalo;Metabolism;" NDUFS1 "Gene:NDUFS1&HGNC:7707&OMIM:157655&UserInfo:Mitochondrial complex I deficiency&UserType:NonSyndrRetard;Encephalo;Metabolism;" NDUFS2 "Gene:NDUFS2&HGNC:7708&OMIM:602985&UserInfo:Mitochondrial complex I deficiency&UserType:NonSyndrRetard;Encephalo;Metabolism;" NDUFS3 "Gene:NDUFS3&HGNC:7710&OMIM:603846&UserInfo:Leigh syndrome due to mitochondrial complex I deficiency ; Mitochondrial complex I deficiency&UserType:NonSyndrRetard;Encephalo;Metabolism;" NDUFS4 "Gene:NDUFS4&HGNC:7711&OMIM:602694&UserInfo:Leigh syndrome ; Mitochondrial complex I deficiency&UserType:NonSyndrRetard;Encephalo;Metabolism;" NDUFS7 "Gene:NDUFS7&HGNC:7714&OMIM:601825&UserInfo:Leigh syndrome&UserType:NonSyndrRetard;Encephalo;Metabolism;" NDUFS8 "Gene:NDUFS8&HGNC:7715&OMIM:602141&UserInfo:Leigh syndrome due to mitochondrial complex I deficiency&UserType:NonSyndrRetard;Encephalo;Metabolism;" NDUFV1 "Gene:NDUFV1&HGNC:7716&OMIM:161015&UserInfo:Mitochondrial complex I deficiency&UserType:NonSyndrRetard;Encephalo;Metabolism;" NEU1 "Gene:NEU1&HGNC:7758&OMIM:608272&UserInfo:Sialidosis, type I ; Sialidosis, type II&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;" nfatc1 Gene:nfatc1&HGNC:7775&OMIM:600489&UserInfo:No OMIM phenotype&UserType: NFIA "Gene:NFIA&HGNC:7784&OMIM:600727&UserInfo:No OMIM phenotype&UserType:SyndrRetard;" NFIX "Gene:NFIX&HGNC:7788&OMIM:164005&UserInfo:Marshall-Smith syndrome ; Sotos syndrome 2&UserType:SyndrRetard;" NHEJ1 "Gene:NHEJ1&HGNC:25737&OMIM:611290&UserInfo:Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation&UserType:SyndrRetard;RetardPlusCerebAbnorm;" NHS "Gene:NHS&HGNC:7820&OMIM:300457&UserInfo:Cataract 40, X-linked ; Nance-Horan syndrome&UserType:SyndrRetard;" NIN "Gene:NIN&HGNC:14906&OMIM:608684&UserInfo:?Seckel syndrome 7&UserType:SyndrRetard;" NIPBL "Gene:NIPBL&HGNC:28862&OMIM:608667&UserInfo:Cornelia de Lange syndrome 1&UserType:SyndrRetard;" NKX2-1 "Gene:NKX2-1&HGNC:11825&OMIM:600635&UserInfo:Chorea, hereditary benign ; Choreoathetosis, hypothyroidism, and neonatal respiratory distress ; Thyroid cancer, monmedullary, 1&UserType:SyndrRetard;NonRetardButSyndr;Neuro;" NLGN3 "Gene:NLGN3&HGNC:14289&OMIM:300336&UserInfo:Asperger syndrome susceptibility, X-linked 1 ; Autism susceptibility, X-linked 1&UserType:NonSyndrRetard;" NLGN4X "Gene:NLGN4X&HGNC:14287&OMIM:300427&UserInfo:Mental retardation, X-linked ; Asperger syndrome susceptibility, X-linked 2 ; Autism susceptibility, X-linked 2&UserType:NonSyndrRetard;" NLRP3 "Gene:NLRP3&HGNC:16400&OMIM:606416&UserInfo:CINCA syndrome ; Familial cold-induced inflammatory syndrome 1 ; Muckle-Wells syndrome&UserType:NonRetardButSyndr;" NPHP1 "Gene:NPHP1&HGNC:7905&OMIM:607100&UserInfo:Joubert syndrome 4 ; Nephronophthisis 1, juvenile ; Senior-Loken syndrome-1&UserType:SyndrRetard;RetardPlusCerebAbnorm;NonRetardButSyndr;" NR2F1 "Gene:NR2F1&HGNC:7975&OMIM:132890&UserInfo:Bosch-Boonstra-Schaaf optic atrophy syndrome&UserType:SyndrRetard;" NRAS "Gene:NRAS&HGNC:7989&OMIM:164790&UserInfo:?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic ; Colorectal cancer, somatic ; Epidermal nevus, somatic ; Melanocytic nevus syndrome, congenital, somatic ; Neurocutaneous melanosis, somatic ; Noonan syndrome 6 ; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic ; Thyroid carcinoma, follicular, somatic&UserType:" NRXN1 "Gene:NRXN1&HGNC:8008&OMIM:600565&UserInfo:Pitt-Hopkins-like syndrome 2 ; Schizophrenia, susceptibility to, 17&UserType:NonSyndrRetard;SyndrRetard;" NRXN2 "Gene:NRXN2&HGNC:8009&OMIM:600566&UserInfo:No OMIM phenotype&UserType:NonSyndrRetard;" NSD1 "Gene:NSD1&HGNC:14234&OMIM:606681&UserInfo:Beckwith-Wiedemann syndrome ; Leukemia, acute myeloid ; Sotos syndrome 1&UserType:NonSyndrRetard;" NSDHL "Gene:NSDHL&HGNC:13398&OMIM:300275&UserInfo:CHILD syndrome ; CK syndrome&UserType:SyndrRetard;RetardPlusCerebAbnorm;" NSUN2 "Gene:NSUN2&HGNC:25994&OMIM:610916&UserInfo:Mental retardation, autosomal recessive 5&UserType:NonSyndrRetard;SyndrRetard;" NTRK1 "Gene:NTRK1&HGNC:8031&OMIM:191315&UserInfo:Insensitivity to pain, congenital, with anhidrosis ; Medullary thyroid carcinoma, familial&UserType:SyndrRetard;" OBSL1 "Gene:OBSL1&HGNC:29092&OMIM:610991&UserInfo:3-M syndrome 2&UserType:NonRetardButSyndr;" OCLN "Gene:OCLN&HGNC:8104&OMIM:602876&UserInfo:Band-like calcification with simplified gyration and polymicrogyria&UserType:SyndrRetard;RetardPlusCerebAbnorm;" OCRL "Gene:OCRL&HGNC:8108&OMIM:300535&UserInfo:Dent disease 2 ; Lowe syndrome&UserType:SyndrRetard;RetardPlusCerebAbnorm;NonRetardButSyndr;" OFD1 "Gene:OFD1&HGNC:2567&OMIM:300170&UserInfo:?Retinitis pigmentosa 23 ; Joubert syndrome 10 ; Orofaciodigital syndrome I ; Simpson-Golabi-Behmel syndrome, type 2&UserType:SyndrRetard;RetardPlusCerebAbnorm;" OPHN1 "Gene:OPHN1&HGNC:8148&OMIM:300127&UserInfo:Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance&UserType:SyndrRetard;RetardPlusCerebAbnorm;" ORC1 "Gene:ORC1&HGNC:8487&OMIM:601902&UserInfo:Meier-Gorlin syndrome 1&UserType:SyndrRetard;" ORC4 "Gene:ORC4&HGNC:8490&OMIM:603056&UserInfo:Meier-Gorlin syndrome 2&UserType:SyndrRetard;" ORC6 "Gene:ORC6&HGNC:17151&OMIM:607213&UserInfo:Meier-Gorlin syndrome 3&UserType:SyndrRetard;" OTC "Gene:OTC&HGNC:8512&OMIM:300461&UserInfo:Ornithine transcarbamylase deficiency&UserType:NonSyndrRetard;Encephalo;Metabolism;" PACS1 "Gene:PACS1&HGNC:30032&OMIM:607492&UserInfo:Schuss-Hoeijmakers sydnrome&UserType:SyndrRetard;" PAFAH1B1 "Gene:PAFAH1B1&HGNC:8574&OMIM:601545&UserInfo:Lissencephaly 1 ; Subcortical laminar heterotopia&UserType:SyndrRetard;RetardPlusCerebAbnorm;" PAH "Gene:PAH&HGNC:8582&OMIM:612349&UserInfo:Phenylketonuria ; [Hyperphenylalaninemia, non-PKU mild]&UserType:NonSyndrRetard;Metabolism;" PAK3 "Gene:PAK3&HGNC:8592&OMIM:300142&UserInfo:Mental retardation, X-linked 30/47&UserType:NonSyndrRetard;" PANK2 "Gene:PANK2&HGNC:15894&OMIM:606157&UserInfo:HARP syndrome ; Neurodegeneration with brain iron accumulation 1&UserType:SyndrRetard;RetardPlusCerebAbnorm;Encephalo;Metabolism;Neuro;" PAPSS2 "Gene:PAPSS2&HGNC:8604&OMIM:603005&UserInfo:Brachyolmia 4 with mild epiphyseal and metaphyseal changes&UserType:NonRetardButSyndr;" PAX1 "Gene:PAX1&HGNC:8615&OMIM:167411&UserInfo:?Otofaciocervical syndrome 2&UserType:SyndrRetard;" PAX2 "Gene:PAX2&HGNC:8616&OMIM:167409&UserInfo:Glomerulosclerosis, focal segmental, 7 ; Papillorenal syndrome&UserType:SyndrRetard;NonRetardButSyndr;" PAX3 "Gene:PAX3&HGNC:8617&OMIM:606597&UserInfo:Craniofacial-deafness-hand syndrome ; Rhabdomyosarcoma 2, alveolar ; Waardenburg syndrome, type 1 ; Waardenburg syndrome, type 3&UserType:NonRetardButSyndr;" PAX6 "Gene:PAX6&HGNC:8620&OMIM:607108&UserInfo:?Morning glory disc anomaly ; Aniridia ; Cataract with late-onset corneal dystrophy ; Coloboma of optic nerve ; Coloboma, ocular ; Foveal hypoplasia 1 ; Keratitis ; Optic nerve hypoplasia ; Peters anomaly&UserType:NonRetardButSyndr;Neuro;" PAX8 "Gene:PAX8&HGNC:8622&OMIM:167415&UserInfo:Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia&UserType:NonRetardButSyndr;" PC "Gene:PC&HGNC:8636&OMIM:608786&UserInfo:Pyruvate carboxylase deficiency&UserType:NonSyndrRetard;SyndrRetard;RetardPlusCerebAbnorm;Encephalo;Metabolism;" PCDH19 "Gene:PCDH19&HGNC:14270&OMIM:300460&UserInfo:Epileptic encephalopathy, early infantile, 9&UserType:NonSyndrRetard;SyndrRetard;Encephalo;" PCGF2 Gene:PCGF2&HGNC:12929&OMIM:600346&UserInfo:No OMIM phenotype&UserType: PCNT "Gene:PCNT&HGNC:16068&OMIM:605925&UserInfo:Microcephalic osteodysplastic primordial dwarfism, type II&UserType:SyndrRetard;" PDE4D "Gene:PDE4D&HGNC:8783&OMIM:600129&UserInfo:Acrodysostosis 2, with or without hormone resistance ; Stroke, susceptibility to, 1&UserType:NonSyndrRetard;NonRetardButSyndr;" PDHA1 "Gene:PDHA1&HGNC:8806&OMIM:300502&UserInfo:Pyruvate dehydrogenase E1-alpha deficiency&UserType:NonSyndrRetard;Encephalo;Metabolism;" PDSS1 "Gene:PDSS1&HGNC:17759&OMIM:607429&UserInfo:Coenzyme Q10 deficiency, primary, 2&UserType:SyndrRetard;Encephalo;Metabolism;" PDSS2 "Gene:PDSS2&HGNC:23041&OMIM:610564&UserInfo:Coenzyme Q10 deficiency, primary, 3&UserType:SyndrRetard;Encephalo;Metabolism;" PEPD "Gene:PEPD&HGNC:8840&OMIM:613230&UserInfo:Prolidase deficiency&UserType:SyndrRetard;Encephalo;Metabolism;" PEX1 "Gene:PEX1&HGNC:8850&OMIM:602136&UserInfo:Heimler syndrome 1 ; Peroxisome biogenesis disorder 1A (Zellweger) ; Peroxisome biogenesis disorder 1B (NALD/IRD)&UserType:SyndrRetard;Encephalo;Metabolism;" PEX10 "Gene:PEX10&HGNC:8851&OMIM:602859&UserInfo:Peroxisome biogenesis disorder 6A (Zellweger) ; Peroxisome biogenesis disorder 6B&UserType:SyndrRetard;Encephalo;Metabolism;" PEX11B "Gene:PEX11B&HGNC:8853&OMIM:603867&UserInfo:Peroxisome biogenesis disorder 14B&UserType:SyndrRetard;Encephalo;Metabolism;" PEX12 "Gene:PEX12&HGNC:8854&OMIM:601758&UserInfo:Peroxisome biogenesis disorder 3A (Zellweger) ; Peroxisome biogenesis disorder 3B&UserType:SyndrRetard;Encephalo;Metabolism;" PEX13 "Gene:PEX13&HGNC:8855&OMIM:601789&UserInfo:Peroxisome biogenesis disorder 11A (Zellweger) ; Peroxisome biogenesis disorder 11B&UserType:SyndrRetard;Encephalo;Metabolism;" PEX16 "Gene:PEX16&HGNC:8857&OMIM:603360&UserInfo:Peroxisome biogenesis disorder 8A, (Zellweger) ; Peroxisome biogenesis disorder 8B&UserType:SyndrRetard;Encephalo;Metabolism;" PEX19 "Gene:PEX19&HGNC:9713&OMIM:600279&UserInfo:Peroxisome biogenesis disorder 12A (Zellweger)&UserType:SyndrRetard;Encephalo;Metabolism;" PEX2 "Gene:PEX2&HGNC:9717&OMIM:170993&UserInfo:Peroxisome biogenesis disorder 5A (Zellweger) ; Peroxisome biogenesis disorder 5B&UserType:SyndrRetard;Encephalo;Metabolism;" PEX26 "Gene:PEX26&HGNC:22965&OMIM:608666&UserInfo:Peroxisome biogenesis disorder 7A (Zellweger) ; Peroxisome biogenesis disorder 7B&UserType:SyndrRetard;Encephalo;Metabolism;" PEX3 "Gene:PEX3&HGNC:8858&OMIM:603164&UserInfo:Peroxisome biogenesis disorder 10A (Zellweger)&UserType:SyndrRetard;Encephalo;Metabolism;" PEX5 "Gene:PEX5&HGNC:9719&OMIM:600414&UserInfo:Peroxisome biogenesis disorder 2A (Zellweger) ; Peroxisome biogenesis disorder 2B ; Rhizomelic chondrodysplasia punctata, type 5&UserType:SyndrRetard;Encephalo;Metabolism;" PEX6 "Gene:PEX6&HGNC:8859&OMIM:601498&UserInfo:Heimler syndrome 2 ; Peroxisome biogenesis disorder 4A (Zellweger) ; Peroxisome biogenesis disorder 4B&UserType:SyndrRetard;Encephalo;Metabolism;" PEX7 "Gene:PEX7&HGNC:8860&OMIM:601757&UserInfo:Peroxisome biogenesis disorder 9B ; Rhizomelic chondrodysplasia punctata, type 1&UserType:SyndrRetard;Encephalo;Metabolism;" PGAP1 "Gene:PGAP1&HGNC:25712&OMIM:611655&UserInfo:Mental retardation, autosomal recessive 42&UserType:SyndrRetard;RetardPlusCerebAbnorm;" PGAP2 "Gene:PGAP2&HGNC:17893&OMIM:615187&UserInfo:Hyperphosphatasia with mental retardation syndrome 3&UserType:NonSyndrRetard;SyndrRetard;" PGAP3 "Gene:PGAP3&HGNC:23719&OMIM:611801&UserInfo:Hyperphosphatasia with mental retardation syndrome 4&UserType:NonSyndrRetard;SyndrRetard;" PGK1 "Gene:PGK1&HGNC:8896&OMIM:311800&UserInfo:Phosphoglycerate kinase 1 deficiency&UserType:SyndrRetard;Encephalo;Metabolism;" PHC1 "Gene:PHC1&HGNC:3182&OMIM:602978&UserInfo:?Microcephaly 11, primary, autosomal recessive&UserType:SyndrRetard;" PHF6 "Gene:PHF6&HGNC:18145&OMIM:300414&UserInfo:Borjeson-Forssman-Lehmann syndrome&UserType:SyndrRetard;" PHF8 "Gene:PHF8&HGNC:20672&OMIM:300560&UserInfo:Mental retardation syndrome, X-linked, Siderius type&UserType:NonSyndrRetard;SyndrRetard;" PHGDH "Gene:PHGDH&HGNC:8923&OMIM:606879&UserInfo:Neu-Laxova syndrome 1 ; Phosphoglycerate dehydrogenase deficiency&UserType:SyndrRetard;Encephalo;Metabolism;" PHIP Gene:PHIP&HGNC:15673&OMIM:612870&UserInfo:No OMIM phenotype&UserType: PIGL "Gene:PIGL&HGNC:8966&OMIM:605947&UserInfo:CHIME syndrome&UserType:SyndrRetard;" PIGN "Gene:PIGN&HGNC:8967&OMIM:606097&UserInfo:Multiple congenital anomalies-hypotonia-seizures syndrome 1&UserType:SyndrRetard;Encephalo;" PIGO "Gene:PIGO&HGNC:23215&OMIM:614730&UserInfo:Hyperphosphatasia with mental retardation syndrome 2&UserType:SyndrRetard;Metabolism;" PIGT "Gene:PIGT&HGNC:14938&OMIM:610272&UserInfo:?Paroxysmal nocturnal hemoglobinuria 2 ; Multiple congenital anomalies-hypotonia-seizures syndrome 3&UserType:SyndrRetard;NonRetardButSyndr;" PIGV "Gene:PIGV&HGNC:26031&OMIM:610274&UserInfo:Hyperphosphatasia with mental retardation syndrome 1&UserType:SyndrRetard;Metabolism;" PIK3R2 "Gene:PIK3R2&HGNC:8980&OMIM:603157&UserInfo:Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1&UserType:SyndrRetard;RetardPlusCerebAbnorm;" PLA2G6 "Gene:PLA2G6&HGNC:9039&OMIM:603604&UserInfo:Infantile neuroaxonal dystrophy 1 ; Neurodegeneration with brain iron accumulation 2B ; Parkinson disease 14, autosomal recessive&UserType:SyndrRetard;RetardPlusCerebAbnorm;Encephalo;Metabolism;" PLCB1 "Gene:PLCB1&HGNC:15917&OMIM:607120&UserInfo:Epileptic encephalopathy, early infantile, 12&UserType:Encephalo;" PLCB4 "Gene:PLCB4&HGNC:9059&OMIM:600810&UserInfo:Auriculocondylar syndrome 2&UserType:SyndrRetard;NonRetardButSyndr;" PLEC "Gene:PLEC&HGNC:9069&OMIM:601282&UserInfo:?Epidermolysis bullosa simplex with nail dystrophy ; Epidermolysis bullosa simplex with muscular dystrophy ; Epidermolysis bullosa simplex with pyloric atresia ; Epidermolysis bullosa simplex, Ogna type ; Muscular dystrophy, limb-girdle, type 2Q&UserType:NonRetardButSyndr;Cardiopathy;Neuro;" PLOD1 "Gene:PLOD1&HGNC:9081&OMIM:153454&UserInfo:Ehlers-Danlos syndrome, type VI&UserType:SyndrRetard;NonRetardButSyndr;" PLP1 "Gene:PLP1&HGNC:9086&OMIM:300401&UserInfo:Pelizaeus-Merzbacher disease ; Spastic paraplegia 2, X-linked&UserType:SyndrRetard;RetardPlusCerebAbnorm;" PLXND1 Gene:PLXND1&HGNC:9107&OMIM:604282&UserInfo:No OMIM phenotype&UserType: PMM2 "Gene:PMM2&HGNC:9115&OMIM:601785&UserInfo:Congenital disorder of glycosylation, type Ia&UserType:SyndrRetard;Encephalo;Metabolism;" PNKP "Gene:PNKP&HGNC:9154&OMIM:605610&UserInfo:Ataxia-oculomotor apraxia 4 ; Microcephaly, seizures, and developmental delay&UserType:SyndrRetard;RetardPlusCerebAbnorm;Encephalo;Neuro;" PNP "Gene:PNP&HGNC:7892&OMIM:164050&UserInfo:Immunodeficiency due to purine nucleoside phosphorylase deficiency&UserType:SyndrRetard;Metabolism;" POC1A "Gene:POC1A&HGNC:24488&OMIM:614783&UserInfo:Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis&UserType:SyndrRetard;NonRetardButSyndr;" POGZ "Gene:POGZ&HGNC:18801&OMIM:614787&UserInfo:White-Sutton syndrome&UserType:NonSyndrRetard;SyndrRetard;" POLG "Gene:POLG&HGNC:9179&OMIM:174763&UserInfo:Mitochondrial DNA depletion syndrome 4A (Alpers type) ; Mitochondrial DNA depletion syndrome 4B (MNGIE type) ; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) ; Progressive external ophthalmoplegia, autosomal dominant 1 ; Progressive external ophthalmoplegia, autosomal recessive 1&UserType:SyndrRetard;Encephalo;Metabolism;Neuro;" POLR3A "Gene:POLR3A&HGNC:30074&OMIM:614258&UserInfo:Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" POLR3B "Gene:POLR3B&HGNC:30348&OMIM:614366&UserInfo:Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" POMGNT1 "Gene:POMGNT1&HGNC:19139&OMIM:606822&UserInfo:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 ; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" POMK "Gene:POMK&HGNC:26267&OMIM:615247&UserInfo:?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 ; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" POMT1 "Gene:POMT1&HGNC:9202&OMIM:607423&UserInfo:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 ; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" POMT2 "Gene:POMT2&HGNC:19743&OMIM:607439&UserInfo:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 ; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" PORCN "Gene:PORCN&HGNC:17652&OMIM:300651&UserInfo:Focal dermal hypoplasia&UserType:SyndrRetard;NonRetardButSyndr;" POU1F1 "Gene:POU1F1&HGNC:9210&OMIM:173110&UserInfo:Pituitary hormone deficiency, combined, 1&UserType:SyndrRetard;NonRetardButSyndr;" PPOX "Gene:PPOX&HGNC:9280&OMIM:600923&UserInfo:Porphyria variegata&UserType:SyndrRetard;Metabolism;NonRetardButSyndr;" PPP2R1A "Gene:PPP2R1A&HGNC:9302&OMIM:605983&UserInfo:Mental retardation, autosomal dominant 36&UserType:SyndrRetard;RetardPlusCerebAbnorm;" PPP2R5D "Gene:PPP2R5D&HGNC:9312&OMIM:601646&UserInfo:Mental retardation, autosomal dominant 35&UserType:SyndrRetard;" PPT1 "Gene:PPT1&HGNC:9325&OMIM:600722&UserInfo:Ceroid lipofuscinosis, neuronal, 1&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;Neuro;" PQBP1 "Gene:PQBP1&HGNC:9330&OMIM:300463&UserInfo:Renpenning syndrome&UserType:SyndrRetard;" PRMT7 "Gene:PRMT7&HGNC:25557&OMIM:610087&UserInfo:No OMIM phenotype&UserType:NonSyndrRetard;SyndrRetard;" PRPS1 "Gene:PRPS1&HGNC:9462&OMIM:311850&UserInfo:Arts syndrome ; Charcot-Marie-Tooth disease, X-linked recessive, 5 ; Deafness, X-linked 1 ; Gout, PRPS-related ; Phosphoribosylpyrophosphate synthetase superactivity&UserType:SyndrRetard;Metabolism;Neuro;" PRSS12 "Gene:PRSS12&HGNC:9477&OMIM:606709&UserInfo:Mental retardation, autosomal recessive 1&UserType:NonSyndrRetard;" PSAP "Gene:PSAP&HGNC:9498&OMIM:176801&UserInfo:Combined SAP deficiency ; Gaucher disease, atypical ; Krabbe disease, atypical ; Metachromatic leukodystrophy due to SAP-b deficiency&UserType:NonSyndrRetard;Encephalo;Metabolism;" PTCH1 "Gene:PTCH1&HGNC:9585&OMIM:601309&UserInfo:Basal cell carcinoma, somatic ; Basal cell nevus syndrome ; Holoprosencephaly 7&UserType:SyndrRetard;NonRetardButSyndr;" PTCHD1 "Gene:PTCHD1&HGNC:26392&OMIM:300828&UserInfo:Autism, susceptibility to, X-linked 4&UserType:NonSyndrRetard;" PTDSS1 "Gene:PTDSS1&HGNC:9587&OMIM:612792&UserInfo:Lenz-Majewski hyperostotic dwarfism&UserType:SyndrRetard;" PTEN "Gene:PTEN&HGNC:9588&OMIM:601728&UserInfo:Bannayan-Riley-Ruvalcaba syndrome ; Cowden syndrome 1 ; Endometrial carcinoma, somatic ; Lhermitte-Duclos syndrome ; Macrocephaly/autism syndrome ; Malignant melanoma, somatic ; PTEN hamartoma tumor syndrome ; Squamous cell carcinoma, head and neck, somatic ; VATER association with macrocephaly and ventriculomegaly ; Glioma susceptibility 2 ; Meningioma ; Prostate cancer, somatic&UserType:NonSyndrRetard;SyndrRetard;NonRetardButSyndr;" PTPN11 "Gene:PTPN11&HGNC:9644&OMIM:176876&UserInfo:LEOPARD syndrome 1 ; Leukemia, juvenile myelomonocytic, somatic ; Metachondromatosis ; Noonan syndrome 1&UserType:SyndrRetard;Cardiopathy;" PUF60 "Gene:PUF60&HGNC:17042&OMIM:604819&UserInfo:Verheij syndrome&UserType:SyndrRetard;" PURA "Gene:PURA&HGNC:9701&OMIM:600473&UserInfo:Mental retardation, autosomal dominant 31&UserType:NonSyndrRetard;SyndrRetard;" PUS1 "Gene:PUS1&HGNC:15508&OMIM:608109&UserInfo:Myopathy, lactic acidosis, and sideroblastic anemia 1&UserType:SyndrRetard;Metabolism;Neuro;" PYCR1 "Gene:PYCR1&HGNC:9721&OMIM:179035&UserInfo:Cutis laxa, autosomal recessive, type IIB ; Cutis laxa, autosomal recessive, type IIIB&UserType:SyndrRetard;" QDPR "Gene:QDPR&HGNC:9752&OMIM:612676&UserInfo:Hyperphenylalaninemia, BH4-deficient, C&UserType:NonSyndrRetard;" RAB18 "Gene:RAB18&HGNC:14244&OMIM:602207&UserInfo:Warburg micro syndrome 3&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" RAB27A "Gene:RAB27A&HGNC:9766&OMIM:603868&UserInfo:Griscelli syndrome, type 2&UserType:SyndrRetard;" RAB39B "Gene:RAB39B&HGNC:16499&OMIM:300774&UserInfo:?Waisman syndrome ; Mental retardation, X-linked 72&UserType:" RAB3GAP1 "Gene:RAB3GAP1&HGNC:17063&OMIM:602536&UserInfo:Warburg micro syndrome 1&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" RAB3GAP2 "Gene:RAB3GAP2&HGNC:17168&OMIM:609275&UserInfo:Martsolf syndrome ; Warburg micro syndrome 2&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" RAB40AL Gene:RAB40AL&HGNC:25410&OMIM:300405&UserInfo:No OMIM phenotype&UserType: RAC1 Gene:RAC1&HGNC:9801&OMIM:602048&UserInfo:No OMIM phenotype&UserType: RAD21 "Gene:RAD21&HGNC:9811&OMIM:606462&UserInfo:Cornelia de Lange syndrome 4&UserType:SyndrRetard;" RAF1 "Gene:RAF1&HGNC:9829&OMIM:164760&UserInfo:Cardiomyopathy, dilated, 1NN ; LEOPARD syndrome 2 ; Noonan syndrome 5&UserType:SyndrRetard;Cardiopathy;" RAI1 "Gene:RAI1&HGNC:9834&OMIM:607642&UserInfo:Smith-Magenis syndrome&UserType:SyndrRetard;" RARS2 "Gene:RARS2&HGNC:21406&OMIM:611524&UserInfo:Pontocerebellar hypoplasia, type 6&UserType:SyndrRetard;RetardPlusCerebAbnorm;" RBBP8 "Gene:RBBP8&HGNC:9891&OMIM:604124&UserInfo:Jawad syndrome ; Pancreatic carcinoma, somatic ; Seckel syndrome 2&UserType:SyndrRetard;" RBM10 "Gene:RBM10&HGNC:9896&OMIM:300080&UserInfo:TARP syndrome&UserType:NonRetardButSyndr;" RBM28 "Gene:RBM28&HGNC:21863&OMIM:612074&UserInfo:?Alopecia, neurologic defects, and endocrinopathy syndrome&UserType:NonRetardButSyndr;" RBM8A "Gene:RBM8A&HGNC:9905&OMIM:605313&UserInfo:Thrombocytopenia-absent radius syndrome&UserType:SyndrRetard;NonRetardButSyndr;" RBMX "Gene:RBMX&HGNC:9910&OMIM:300199&UserInfo:?Mental retardation, X-linked, syndromic 11, Shashi type&UserType:SyndrRetard;" RECQL4 "Gene:RECQL4&HGNC:9949&OMIM:603780&UserInfo:Baller-Gerold syndrome ; RAPADILINO syndrome ; Rothmund-Thomson syndrome&UserType:NonRetardButSyndr;" RELN "Gene:RELN&HGNC:9957&OMIM:600514&UserInfo:Lissencephaly 2 (Norman-Roberts type) ; Epilepsy, familial temporal lobe, 7&UserType:SyndrRetard;" RFT1 "Gene:RFT1&HGNC:30220&OMIM:611908&UserInfo:Congenital disorder of glycosylation, type In&UserType:SyndrRetard;Metabolism;" RHEB Gene:RHEB&HGNC:10011&OMIM:601293&UserInfo:No OMIM phenotype&UserType: RIT1 "Gene:RIT1&HGNC:10023&OMIM:609591&UserInfo:Noonan syndrome 8&UserType:SyndrRetard;" RMND1 "Gene:RMND1&HGNC:21176&OMIM:614917&UserInfo:Combined oxidative phosphorylation deficiency 11&UserType:SyndrRetard;Encephalo;Metabolism;" RMRP "Gene:RMRP&HGNC:10031&OMIM:157660&UserInfo:Anauxetic dysplasia ; Cartilage-hair hypoplasia ; Metaphyseal dysplasia without hypotrichosis&UserType:SyndrRetard;" RNASEH2A Gene:RNASEH2A&HGNC:18518&OMIM:606034&UserInfo:Aicardi-Goutieres syndrome 4&UserType: RNASEH2B Gene:RNASEH2B&HGNC:25671&OMIM:610326&UserInfo:Aicardi-Goutieres syndrome 2&UserType: RNASEH2C Gene:RNASEH2C&HGNC:24116&OMIM:610330&UserInfo:Aicardi-Goutieres syndrome 3&UserType: RNASET2 "Gene:RNASET2&HGNC:21686&OMIM:612944&UserInfo:Leukoencephalopathy, cystic, without megalencephaly&UserType:NonSyndrRetard;SyndrRetard;" RNU4ATAC "Gene:RNU4ATAC&HGNC:34016&OMIM:601428&UserInfo:Microcephalic osteodysplastic primordial dwarfism, type I ; Roifman syndrome&UserType:SyndrRetard;RetardPlusCerebAbnorm;" ROGDI "Gene:ROGDI&HGNC:29478&OMIM:614574&UserInfo:Kohlschutter-Tonz syndrome&UserType:SyndrRetard;" RPGRIP1L "Gene:RPGRIP1L&HGNC:29168&OMIM:610937&UserInfo:COACH syndrome ; Joubert syndrome 7 ; Meckel syndrome 5&UserType:NonSyndrRetard;SyndrRetard;" RPIA "Gene:RPIA&HGNC:10297&OMIM:180430&UserInfo:?Ribose 5-phosphate isomerase deficiency&UserType:SyndrRetard;" RPL10 "Gene:RPL10&HGNC:10298&OMIM:312173&UserInfo:Autism, susceptibility to, X-linked 5&UserType:NonSyndrRetard;" RPS6KA3 "Gene:RPS6KA3&HGNC:10432&OMIM:300075&UserInfo:Coffin-Lowry syndrome ; Mental retardation, X-linked 19&UserType:NonSyndrRetard;SyndrRetard;" RTEL1 "Gene:RTEL1&HGNC:15888&OMIM:608833&UserInfo:Dyskeratosis congenita, autosomal dominant 4 ; Dyskeratosis congenita, autosomal recessive 5 ; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3&UserType:SyndrRetard;NonRetardButSyndr;" RTTN "Gene:RTTN&HGNC:18654&OMIM:610436&UserInfo:Microcephaly, short stature, and polymicrogyria with seizures&UserType:SyndrRetard;RetardPlusCerebAbnorm;" RUBCN "Gene:RUBCN&HGNC:28991&OMIM:613516&UserInfo:?Spinocerebellar ataxia, autosomal recessive 15&UserType:SyndrRetard;Neuro;" SALL1 "Gene:SALL1&HGNC:10524&OMIM:602218&UserInfo:Townes-Brocks branchiootorenal-like syndrome ; Townes-Brocks syndrome&UserType:SyndrRetard;NonRetardButSyndr;" SAMHD1 "Gene:SAMHD1&HGNC:15925&OMIM:606754&UserInfo:?Chilblain lupus 2 ; Aicardi-Goutieres syndrome 5&UserType:SyndrRetard;RetardPlusCerebAbnorm;Encephalo;" SATB2 "Gene:SATB2&HGNC:21637&OMIM:608148&UserInfo:Glass syndrome&UserType:NonSyndrRetard;SyndrRetard;" SC5D "Gene:SC5D&HGNC:10547&OMIM:602286&UserInfo:Lathosterolosis&UserType:SyndrRetard;Metabolism;" SCN1A "Gene:SCN1A&HGNC:10585&OMIM:182389&UserInfo:Dravet syndrome ; Epilepsy, generalized, with febrile seizures plus, type 2 ; Febrile seizures, familial, 3A ; Migraine, familial hemiplegic, 3&UserType:SyndrRetard;Neuro;" SCN2A "Gene:SCN2A&HGNC:10588&OMIM:182390&UserInfo:Epileptic encephalopathy, early infantile, 11 ; Seizures, benign familial infantile, 3&UserType:SyndrRetard;Encephalo;Neuro;" SCN8A "Gene:SCN8A&HGNC:10596&OMIM:600702&UserInfo:?Cognitive impairment with or without cerebellar ataxia ; Epileptic encephalopathy, early infantile, 13 ; Seizures, benign familial infantile, 5&UserType:SyndrRetard;Encephalo;" SCO2 "Gene:SCO2&HGNC:10604&OMIM:604272&UserInfo:Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 ; Myopia 6&UserType:SyndrRetard;Encephalo;Metabolism;Cardiopathy;" SDHA "Gene:SDHA&HGNC:10680&OMIM:600857&UserInfo:Cardiomyopathy, dilated, 1GG ; Leigh syndrome ; Mitochondrial respiratory chain complex II deficiency ; Paragangliomas 5&UserType:SyndrRetard;Encephalo;Metabolism;" SEPSECS "Gene:SEPSECS&HGNC:30605&OMIM:613009&UserInfo:Pontocerebellar hypoplasia type 2D&UserType:SyndrRetard;RetardPlusCerebAbnorm;" SERAC1 "Gene:SERAC1&HGNC:21061&OMIM:614725&UserInfo:3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome&UserType:SyndrRetard;Encephalo;" SETBP1 "Gene:SETBP1&HGNC:15573&OMIM:611060&UserInfo:Mental retardation, autosomal dominant 29 ; Schinzel-Giedion midface retraction syndrome&UserType:SyndrRetard;" SETD2 "Gene:SETD2&HGNC:18420&OMIM:612778&UserInfo:Luscan-Lumish syndrome&UserType:NonSyndrRetard;SyndrRetard;" SETD5 "Gene:SETD5&HGNC:25566&OMIM:615743&UserInfo:Mental retardation, autosomal dominant 23&UserType:NonSyndrRetard;SyndrRetard;" SF1 "Gene:SF1&HGNC:12950&OMIM:601516&UserInfo:No OMIM phenotype&UserType:NonRetardButSyndr;" SGSH "Gene:SGSH&HGNC:10818&OMIM:605270&UserInfo:Mucopolysaccharidosis type IIIA (Sanfilippo A)&UserType:NonSyndrRetard;SyndrRetard;Metabolism;" SHANK2 "Gene:SHANK2&HGNC:14295&OMIM:603290&UserInfo:Autism susceptibility 17&UserType:NonSyndrRetard;" SHANK3 "Gene:SHANK3&HGNC:14294&OMIM:606230&UserInfo:Phelan-McDermid syndrome ; Schizophrenia 15&UserType:NonSyndrRetard;" SHH "Gene:SHH&HGNC:10848&OMIM:600725&UserInfo:Holoprosencephaly 3 ; Microphthalmia with coloboma 5 ; Schizencephaly ; Single median maxillary central incisor&UserType:SyndrRetard;RetardPlusCerebAbnorm;NonRetardButSyndr;" SHOC2 "Gene:SHOC2&HGNC:15454&OMIM:602775&UserInfo:Noonan-like syndrome with loose anagen hair&UserType:SyndrRetard;" SHROOM4 "Gene:SHROOM4&HGNC:29215&OMIM:300579&UserInfo:?Stocco dos Santos X-linked mental retardation syndrome&UserType:NonSyndrRetard;SyndrRetard;" SIL1 "Gene:SIL1&HGNC:24624&OMIM:608005&UserInfo:Marinesco-Sjogren syndrome&UserType:SyndrRetard;Neuro;" SIN3A Gene:SIN3A&HGNC:19353&OMIM:607776&UserInfo:Witteveen-Kolk syndrome&UserType: SIX3 "Gene:SIX3&HGNC:10889&OMIM:603714&UserInfo:Holoprosencephaly 2 ; Schizencephaly&UserType:NonSyndrRetard;SyndrRetard;" SKI "Gene:SKI&HGNC:10896&OMIM:164780&UserInfo:Shprintzen-Goldberg syndrome&UserType:NonSyndrRetard;" SLC12A6 "Gene:SLC12A6&HGNC:10914&OMIM:604878&UserInfo:Agenesis of the corpus callosum with peripheral neuropathy&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" SLC16A2 "Gene:SLC16A2&HGNC:10923&OMIM:300095&UserInfo:Allan-Herndon-Dudley syndrome&UserType:NonSyndrRetard;SyndrRetard;Metabolism;" SLC17A5 "Gene:SLC17A5&HGNC:10933&OMIM:604322&UserInfo:Salla disease ; Sialic acid storage disorder, infantile&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;" SLC19A3 "Gene:SLC19A3&HGNC:16266&OMIM:606152&UserInfo:Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)&UserType:NonSyndrRetard;Encephalo;Metabolism;Neuro;" SLC1A1 "Gene:SLC1A1&HGNC:10939&OMIM:133550&UserInfo:Dicarboxylic aminoaciduria ; ?Schizophrenia susceptibility 18&UserType:Metabolism;" SLC1A4 "Gene:SLC1A4&HGNC:10942&OMIM:600229&UserInfo:Spastic tetraplegia, thin corpus callosum, and progressive microcephaly&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" SLC25A15 "Gene:SLC25A15&HGNC:10985&OMIM:603861&UserInfo:Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome&UserType:SyndrRetard;Metabolism;" SLC25A22 "Gene:SLC25A22&HGNC:19954&OMIM:609302&UserInfo:Epileptic encephalopathy, early infantile, 3&UserType:Encephalo;" SLC2A1 "Gene:SLC2A1&HGNC:11005&OMIM:138140&UserInfo:Dystonia 9 ; GLUT1 deficiency syndrome 1, infantile onset, severe ; GLUT1 deficiency syndrome 2, childhood onset ; Stomatin-deficient cryohydrocytosis with neurologic defects ; Epilepsy, idiopathic generalized, susceptibility to, 12&UserType:SyndrRetard;Encephalo;Metabolism;Neuro;" SLC33A1 "Gene:SLC33A1&HGNC:95&OMIM:603690&UserInfo:Congenital cataracts, hearing loss, and neurodegeneration ; Spastic paraplegia 42, autosomal dominant&UserType:SyndrRetard;RetardPlusCerebAbnorm;Metabolism;Neuro;" SLC35A2 "Gene:SLC35A2&HGNC:11022&OMIM:314375&UserInfo:Congenital disorder of glycosylation, type IIm&UserType:SyndrRetard;Metabolism;" SLC35C1 "Gene:SLC35C1&HGNC:20197&OMIM:605881&UserInfo:Congenital disorder of glycosylation, type IIc&UserType:SyndrRetard;Metabolism;" SLC39A12 Gene:SLC39A12&HGNC:20860&OMIM:608734&UserInfo:No OMIM phenotype&UserType: SLC4A4 "Gene:SLC4A4&HGNC:11030&OMIM:603345&UserInfo:Renal tubular acidosis, proximal, with ocular abnormalities&UserType:SyndrRetard;" SLC6A17 "Gene:SLC6A17&HGNC:31399&OMIM:610299&UserInfo:Mental retardation, autosomal recessive 48&UserType:NonSyndrRetard;SyndrRetard;Neuro;" SLC6A3 "Gene:SLC6A3&HGNC:11049&OMIM:126455&UserInfo:Parkinsonism-dystonia, infantile ; Nicotine dependence, protection against&UserType:SyndrRetard;Metabolism;Neuro;" SLC6A8 "Gene:SLC6A8&HGNC:11055&OMIM:300036&UserInfo:Cerebral creatine deficiency syndrome 1&UserType:NonSyndrRetard;Encephalo;Metabolism;" SLC7A7 "Gene:SLC7A7&HGNC:11065&OMIM:603593&UserInfo:Lysinuric protein intolerance&UserType:SyndrRetard;Metabolism;" SLC9A6 "Gene:SLC9A6&HGNC:11079&OMIM:300231&UserInfo:Mental retardation, X-linked syndromic, Christianson type&UserType:SyndrRetard;" SMAD4 "Gene:SMAD4&HGNC:6770&OMIM:600993&UserInfo:Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome ; Myhre syndrome ; Pancreatic cancer, somatic ; Polyposis, juvenile intestinal&UserType:SyndrRetard;NonRetardButSyndr;" SMARCA2 "Gene:SMARCA2&HGNC:11098&OMIM:600014&UserInfo:Nicolaides-Baraitser syndrome&UserType:SyndrRetard;" SMARCA4 "Gene:SMARCA4&HGNC:11100&OMIM:603254&UserInfo:Coffin-Siris syndrome 4 ; Rhabdoid tumor predisposition syndrome 2&UserType:SyndrRetard;" SMARCB1 "Gene:SMARCB1&HGNC:11103&OMIM:601607&UserInfo:Coffin-Siris syndrome 3 ; Rhabdoid tumors, somatic ; Rhabdoid predisposition syndrome 1 ; Schwannomatosis-1, susceptibility to&UserType:SyndrRetard;" SMARCC2 "Gene:SMARCC2&HGNC:11105&OMIM:601734&UserInfo:No OMIM phenotype&UserType:SyndrRetard;" SMARCE1 "Gene:SMARCE1&HGNC:11109&OMIM:603111&UserInfo:Coffin-Siris syndrome 5 ; Meningioma, familial, susceptibility to&UserType:SyndrRetard;" SMC1A "Gene:SMC1A&HGNC:11111&OMIM:300040&UserInfo:Cornelia de Lange syndrome 2&UserType:SyndrRetard;" SMC3 "Gene:SMC3&HGNC:2468&OMIM:606062&UserInfo:Cornelia de Lange syndrome 3&UserType:SyndrRetard;" SMOC1 "Gene:SMOC1&HGNC:20318&OMIM:608488&UserInfo:Microphthalmia with limb anomalies&UserType:SyndrRetard;NonRetardButSyndr;" SMPD1 "Gene:SMPD1&HGNC:11120&OMIM:607608&UserInfo:Niemann-Pick disease, type A ; Niemann-Pick disease, type B&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;" SMS "Gene:SMS&HGNC:11123&OMIM:300105&UserInfo:Mental retardation, X-linked, Snyder-Robinson type&UserType:SyndrRetard;" SNAP29 "Gene:SNAP29&HGNC:11133&OMIM:604202&UserInfo:Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome&UserType:SyndrRetard;RetardPlusCerebAbnorm;" SNIP1 "Gene:SNIP1&HGNC:30587&OMIM:608241&UserInfo:Psychomotor retardation, epilepsy, and craniofacial dysmorphism&UserType:SyndrRetard;RetardPlusCerebAbnorm;Encephalo;" SNX14 "Gene:SNX14&HGNC:14977&OMIM:616105&UserInfo:Spinocerebellar ataxia, autosomal recessive 20&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" SOBP "Gene:SOBP&HGNC:29256&OMIM:613667&UserInfo:Mental retardation, anterior maxillary protrusion, and strabismus&UserType:SyndrRetard;" SON Gene:SON&HGNC:11183&OMIM:182465&UserInfo:No OMIM phenotype&UserType: SOS1 "Gene:SOS1&HGNC:11187&OMIM:182530&UserInfo:?Fibromatosis, gingival, 1 ; Noonan syndrome 4&UserType:SyndrRetard;" SOX10 "Gene:SOX10&HGNC:11190&OMIM:602229&UserInfo:PCWH syndrome ; Waardenburg syndrome, type 2E, with or without neurologic involvement ; Waardenburg syndrome, type 4C&UserType:SyndrRetard;RetardPlusCerebAbnorm;NonRetardButSyndr;Neuro;" SOX11 "Gene:SOX11&HGNC:11191&OMIM:600898&UserInfo:Mental retardation, autosomal dominant, 27&UserType:NonSyndrRetard;SyndrRetard;" SOX2 "Gene:SOX2&HGNC:11195&OMIM:184429&UserInfo:Microphthalmia, syndromic 3 ; Optic nerve hypoplasia and abnormalities of the central nervous system&UserType:SyndrRetard;RetardPlusCerebAbnorm;" SOX3 "Gene:SOX3&HGNC:11199&OMIM:313430&UserInfo:Mental retardation, X-linked, with isolated growth hormone deficiency ; Panhypopituitarism, X-linked&UserType:SyndrRetard;RetardPlusCerebAbnorm;" SOX5 "Gene:SOX5&HGNC:11201&OMIM:604975&UserInfo:Lamb-Shaffer syndrome&UserType:NonSyndrRetard;SyndrRetard;" SPECC1L "Gene:SPECC1L&HGNC:29022&OMIM:614140&UserInfo:?Facial clefting, oblique, 1 ; Opitz GBBB syndrome, type II&UserType:SyndrRetard;NonRetardButSyndr;" SPG11 "Gene:SPG11&HGNC:11226&OMIM:610844&UserInfo:Amyotrophic lateral sclerosis 5, juvenile ; Charcot-Marie-Tooth disease, axonal, type 2X ; Spastic paraplegia 11, autosomal recessive&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" SPR "Gene:SPR&HGNC:11257&OMIM:182125&UserInfo:Dystonia, dopa-responsive, due to sepiapterin reductase deficiency&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;Neuro;" SPRED1 "Gene:SPRED1&HGNC:20249&OMIM:609291&UserInfo:Legius syndrome&UserType:SyndrRetard;NonRetardButSyndr;" SPTAN1 "Gene:SPTAN1&HGNC:11273&OMIM:182810&UserInfo:Epileptic encephalopathy, early infantile, 5&UserType:Encephalo;" SRCAP "Gene:SRCAP&HGNC:16974&OMIM:611421&UserInfo:Floating-Harbor syndrome&UserType:SyndrRetard;" SRD5A3 "Gene:SRD5A3&HGNC:25812&OMIM:611715&UserInfo:Congenital disorder of glycosylation, type Iq ; Kahrizi syndrome&UserType:SyndrRetard;Metabolism;" SRPX2 "Gene:SRPX2&HGNC:30668&OMIM:300642&UserInfo:?Rolandic epilepsy, mental retardation, and speech dyspraxia&UserType:SyndrRetard;Neuro;" ST3GAL3 "Gene:ST3GAL3&HGNC:10866&OMIM:606494&UserInfo:Epileptic encephalopathy, early infantile, 15 ; Mental retardation, autosomal recessive 12&UserType:NonSyndrRetard;Encephalo;" ST3GAL5 "Gene:ST3GAL5&HGNC:10872&OMIM:604402&UserInfo:Amish infantile epilepsy syndrome&UserType:SyndrRetard;Encephalo;" STAG1 Gene:STAG1&HGNC:11354&OMIM:604358&UserInfo:No OMIM phenotype&UserType: STAMBP "Gene:STAMBP&HGNC:16950&OMIM:606247&UserInfo:Microcephaly-capillary malformation syndrome&UserType:SyndrRetard;RetardPlusCerebAbnorm;Encephalo;" STIL "Gene:STIL&HGNC:10879&OMIM:181590&UserInfo:Microcephaly 7, primary, autosomal recessive&UserType:SyndrRetard;RetardPlusCerebAbnorm;" STRA6 "Gene:STRA6&HGNC:30650&OMIM:610745&UserInfo:Microphthalmia, isolated, with coloboma 8 ; Microphthalmia, syndromic 9&UserType:SyndrRetard;NonRetardButSyndr;" STT3A "Gene:STT3A&HGNC:6172&OMIM:601134&UserInfo:?Congenital disorder of glycosylation, type Iw&UserType:SyndrRetard;Metabolism;" STT3B "Gene:STT3B&HGNC:30611&OMIM:608605&UserInfo:?Congenital disorder of glycosylation, type Ix&UserType:SyndrRetard;Metabolism;" STX1B "Gene:STX1B&HGNC:18539&OMIM:601485&UserInfo:Generalized epilepsy with febrile seizures plus, type 9&UserType:SyndrRetard;Neuro;" STXBP1 "Gene:STXBP1&HGNC:11444&OMIM:602926&UserInfo:Epileptic encephalopathy, early infantile, 4&UserType:SyndrRetard;Encephalo;" SUCLA2 "Gene:SUCLA2&HGNC:11448&OMIM:603921&UserInfo:Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)&UserType:SyndrRetard;Encephalo;Metabolism;" SUOX "Gene:SUOX&HGNC:11460&OMIM:606887&UserInfo:Sulfite oxidase deficiency&UserType:SyndrRetard;Encephalo;Metabolism;" SURF1 "Gene:SURF1&HGNC:11474&OMIM:185620&UserInfo:Charcot-Marie-Tooth disease, type 4K ; Leigh syndrome, due to COX IV deficiency&UserType:SyndrRetard;RetardPlusCerebAbnorm;Encephalo;Metabolism;Neuro;" SYN1 "Gene:SYN1&HGNC:11494&OMIM:313440&UserInfo:Epilepsy, X-linked, with variable learning disabilities and behavior disorders&UserType:NonSyndrRetard;SyndrRetard;Neuro;" SYNCRIP Gene:SYNCRIP&HGNC:16918&OMIM:616686&UserInfo:No OMIM phenotype&UserType: SYNE1 "Gene:SYNE1&HGNC:17089&OMIM:608441&UserInfo:Emery-Dreifuss muscular dystrophy 4, autosomal dominant ; Spinocerebellar ataxia, autosomal recessive 8&UserType:Neuro;" SYNGAP1 "Gene:SYNGAP1&HGNC:11497&OMIM:603384&UserInfo:Mental retardation, autosomal dominant 5&UserType:NonSyndrRetard;SyndrRetard;" SYP "Gene:SYP&HGNC:11506&OMIM:313475&UserInfo:Mental retardation, X-linked 96&UserType:NonSyndrRetard;" SYT14 "Gene:SYT14&HGNC:23143&OMIM:610949&UserInfo:Spinocerebellar ataxia, autosomal recessive 11&UserType:NonSyndrRetard;SyndrRetard;Neuro;" TAF2 "Gene:TAF2&HGNC:11536&OMIM:604912&UserInfo:Mental retardation, autosomal recessive 40&UserType:SyndrRetard;Neuro;" TAT "Gene:TAT&HGNC:11573&OMIM:613018&UserInfo:Tyrosinemia, type II&UserType:SyndrRetard;Metabolism;" TBC1D24 "Gene:TBC1D24&HGNC:29203&OMIM:613577&UserInfo:Deafness , autosomal recessive 86 ; Deafness, autosomal dominant 65 ; DOOR syndrome ; Epileptic encephalopathy, early infantile, 16 ; Myoclonic epilepsy, infantile, familial&UserType:SyndrRetard;Encephalo;NonRetardButSyndr;Neuro;" TBC1D7 "Gene:TBC1D7&HGNC:21066&OMIM:612655&UserInfo:Macrocephaly/megalencephaly syndrome, autosomal recessive&UserType:SyndrRetard;" TBCE "Gene:TBCE&HGNC:11582&OMIM:604934&UserInfo:Hypoparathyroidism-retardation-dysmorphism syndrome ; Kenny-Caffey syndrome, type 1&UserType:SyndrRetard;" TBL1XR1 "Gene:TBL1XR1&HGNC:29529&OMIM:608628&UserInfo:Mental retardation, autosomal dominant 41 ; Pierpont syndrome&UserType:NonSyndrRetard;SyndrRetard;" TBR1 "Gene:TBR1&HGNC:11590&OMIM:604616&UserInfo:No OMIM phenotype&UserType:NonSyndrRetard;" TCF20 "Gene:TCF20&HGNC:11631&OMIM:603107&UserInfo:No OMIM phenotype&UserType:NonSyndrRetard;" TCF4 "Gene:TCF4&HGNC:11634&OMIM:602272&UserInfo:Corneal dystrophy, Fuchs endothelial, 3 ; Pitt-Hopkins syndrome&UserType:NonSyndrRetard;" TCOF1 "Gene:TCOF1&HGNC:11654&OMIM:606847&UserInfo:Treacher Collins syndrome 1&UserType:NonRetardButSyndr;" TCTN1 Gene:TCTN1&HGNC:26113&OMIM:609863&UserInfo:Joubert syndrome 13&UserType: TCTN2 "Gene:TCTN2&HGNC:25774&OMIM:613846&UserInfo:?Meckel syndrome 8 ; Joubert syndrome 24&UserType:" TCTN3 "Gene:TCTN3&HGNC:24519&OMIM:613847&UserInfo:Joubert syndrome 18 ; Orofaciodigital syndrome IV&UserType:" TECR "Gene:TECR&HGNC:4551&OMIM:610057&UserInfo:Mental retardation, autosomal recessive 14&UserType:NonSyndrRetard;" TECTA "Gene:TECTA&HGNC:11720&OMIM:602574&UserInfo:Deafness, autosomal dominant 8/12 ; Deafness, autosomal recessive 21&UserType:NonRetardButSyndr;" TGIF1 "Gene:TGIF1&HGNC:11776&OMIM:602630&UserInfo:Holoprosencephaly 4&UserType:SyndrRetard;RetardPlusCerebAbnorm;" TH "Gene:TH&HGNC:11782&OMIM:191290&UserInfo:Segawa syndrome, recessive&UserType:SyndrRetard;Encephalo;Metabolism;Neuro;" THOC6 "Gene:THOC6&HGNC:28369&OMIM:615403&UserInfo:Beaulieu-Boycott-Innes syndrome&UserType:SyndrRetard;" THRB "Gene:THRB&HGNC:11799&OMIM:190160&UserInfo:Thyroid hormone resistance ; Thyroid hormone resistance, autosomal recessive ; Thyroid hormone resistance, selective pituitary&UserType:SyndrRetard;NonRetardButSyndr;" TIMM8A "Gene:TIMM8A&HGNC:11817&OMIM:300356&UserInfo:Mohr-Tranebjaerg syndrome&UserType:SyndrRetard;Neuro;" TLK2 Gene:TLK2&HGNC:11842&OMIM:608439&UserInfo:No OMIM phenotype&UserType: TMCO1 "Gene:TMCO1&HGNC:18188&OMIM:614123&UserInfo:Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome&UserType:SyndrRetard;" TMEM138 Gene:TMEM138&HGNC:26944&OMIM:614459&UserInfo:Joubert syndrome 16&UserType: TMEM165 "Gene:TMEM165&HGNC:30760&OMIM:614726&UserInfo:Congenital disorder of glycosylation, type IIk&UserType:SyndrRetard;Metabolism;" TMEM216 "Gene:TMEM216&HGNC:25018&OMIM:613277&UserInfo:Joubert syndrome 2 ; Meckel syndrome 2&UserType:" TMEM231 "Gene:TMEM231&HGNC:37234&OMIM:614949&UserInfo:Joubert syndrome 20 ; Meckel syndrome 11&UserType:SyndrRetard;RetardPlusCerebAbnorm;" TMEM237 "Gene:TMEM237&HGNC:14432&OMIM:614423&UserInfo:Joubert syndrome 14&UserType:SyndrRetard;RetardPlusCerebAbnorm;" TMEM67 "Gene:TMEM67&HGNC:28396&OMIM:609884&UserInfo:COACH syndrome ; Joubert syndrome 6 ; Meckel syndrome 3 ; Nephronophthisis 11 ; Bardet-Biedl syndrome 14, modifier of&UserType:SyndrRetard;RetardPlusCerebAbnorm;" TMLHE "Gene:TMLHE&HGNC:18308&OMIM:300777&UserInfo:Autism, susceptibility to, X-linked 6&UserType:NonSyndrRetard;" TPP1 "Gene:TPP1&HGNC:2073&OMIM:607998&UserInfo:Ceroid lipofuscinosis, neuronal, 2 ; Spinocerebellar ataxia, autosomal recessive 7&UserType:NonSyndrRetard;SyndrRetard;Encephalo;Metabolism;Neuro;" TRAPPC11 "Gene:TRAPPC11&HGNC:25751&OMIM:614138&UserInfo:Muscular dystrophy, limb-girdle, type 2S&UserType:SyndrRetard;Neuro;" TRAPPC9 "Gene:TRAPPC9&HGNC:30832&OMIM:611966&UserInfo:Mental retardation, autosomal recessive 13&UserType:SyndrRetard;" TREX1 "Gene:TREX1&HGNC:12269&OMIM:606609&UserInfo:Aicardi-Goutieres syndrome 1, dominant and recessive ; Chilblain lupus ; Vasculopathy, retinal, with cerebral leukodystrophy ; Systemic lupus erythematosus, susceptibility to&UserType:SyndrRetard;RetardPlusCerebAbnorm;Encephalo;" TRIM32 "Gene:TRIM32&HGNC:16380&OMIM:602290&UserInfo:?Bardet-Biedl syndrome 11 ; Muscular dystrophy, limb-girdle, type 2H&UserType:SyndrRetard;Neuro;" TRIO "Gene:TRIO&HGNC:12303&OMIM:601893&UserInfo:Mental retardation, autosomal dominant 44&UserType:NonSyndrRetard;SyndrRetard;" TRIP12 Gene:TRIP12&HGNC:12306&OMIM:604506&UserInfo:No OMIM phenotype&UserType: TRMT10A "Gene:TRMT10A&HGNC:28403&OMIM:616013&UserInfo:Microcephaly, short stature, and impaired glucose metabolism 1&UserType:SyndrRetard;" TSC1 "Gene:TSC1&HGNC:12362&OMIM:605284&UserInfo:Lymphangioleiomyomatosis ; Tuberous sclerosis-1&UserType:SyndrRetard;" TSC2 "Gene:TSC2&HGNC:12363&OMIM:191092&UserInfo:Lymphangioleiomyomatosis, somatic ; Tuberous sclerosis-2&UserType:SyndrRetard;" TSEN2 "Gene:TSEN2&HGNC:28422&OMIM:608753&UserInfo:Pontocerebellar hypoplasia type 2B&UserType:SyndrRetard;RetardPlusCerebAbnorm;" TSEN34 "Gene:TSEN34&HGNC:15506&OMIM:608754&UserInfo:?Pontocerebellar hypoplasia type 2C&UserType:SyndrRetard;RetardPlusCerebAbnorm;" TSEN54 "Gene:TSEN54&HGNC:27561&OMIM:608755&UserInfo:?Pontocerebellar hypoplasia type 5 ; Pontocerebellar hypoplasia type 2A ; Pontocerebellar hypoplasia type 4&UserType:SyndrRetard;RetardPlusCerebAbnorm;" TSPAN7 "Gene:TSPAN7&HGNC:11854&OMIM:300096&UserInfo:Mental retardation, X-linked 58&UserType:NonSyndrRetard;" TTC21B "Gene:TTC21B&HGNC:25660&OMIM:612014&UserInfo:Nephronophthisis 12 ; Short-rib thoracic dysplasia 4 with or without polydactyly&UserType:" TTC8 "Gene:TTC8&HGNC:20087&OMIM:608132&UserInfo:?Retinitis pigmentosa 51 ; Bardet-Biedl syndrome 8&UserType:SyndrRetard;RetardPlusCerebAbnorm;" TTI2 "Gene:TTI2&HGNC:26262&OMIM:614426&UserInfo:Mental retardation, autosomal recessive 39&UserType:NonSyndrRetard;SyndrRetard;" TUBA1A "Gene:TUBA1A&HGNC:20766&OMIM:602529&UserInfo:Lissencephaly 3&UserType:SyndrRetard;RetardPlusCerebAbnorm;" TUBA8 "Gene:TUBA8&HGNC:12410&OMIM:605742&UserInfo:Polymicrogyria with optic nerve hypoplasia&UserType:SyndrRetard;RetardPlusCerebAbnorm;" TUBB "Gene:TUBB&HGNC:20778&OMIM:191130&UserInfo:Cortical dysplasia, complex, with other brain malformations 6 ; Symmetric circumferential skin creases, congenital, 1&UserType:SyndrRetard;RetardPlusCerebAbnorm;" TUBB2A "Gene:TUBB2A&HGNC:12412&OMIM:615101&UserInfo:Cortical dysplasia, complex, with other brain malformations 5&UserType:SyndrRetard;RetardPlusCerebAbnorm;" TUBB2B "Gene:TUBB2B&HGNC:30829&OMIM:612850&UserInfo:Polymicrogyria, symmetric or asymmetric&UserType:SyndrRetard;RetardPlusCerebAbnorm;" TUBB3 "Gene:TUBB3&HGNC:20772&OMIM:602661&UserInfo:Cortical dysplasia, complex, with other brain malformations 1 ; Fibrosis of extraocular muscles, congenital, 3A&UserType:SyndrRetard;RetardPlusCerebAbnorm;" TUBB4A "Gene:TUBB4A&HGNC:20774&OMIM:602662&UserInfo:Dystonia 4, torsion, autosomal dominant ; Leukodystrophy, hypomyelinating, 6&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" TUBG1 "Gene:TUBG1&HGNC:12417&OMIM:191135&UserInfo:Cortical dysplasia, complex, with other brain malformations 4&UserType:SyndrRetard;RetardPlusCerebAbnorm;" TUBGCP6 "Gene:TUBGCP6&HGNC:18127&OMIM:610053&UserInfo:Microcephaly and chorioretinopathy, autosomal recessive, 1&UserType:SyndrRetard;RetardPlusCerebAbnorm;" TUSC3 "Gene:TUSC3&HGNC:30242&OMIM:601385&UserInfo:Mental retardation, autosomal recessive 7&UserType:NonSyndrRetard;" TWIST1 "Gene:TWIST1&HGNC:12428&OMIM:601622&UserInfo:Craniosynostosis, type 1 ; Robinow-Sorauf syndrome ; Saethre-Chotzen syndrome ; Saethre-Chotzen syndrome with eyelid anomalies&UserType:SyndrRetard;NonRetardButSyndr;" UBE2A "Gene:UBE2A&HGNC:12472&OMIM:312180&UserInfo:Mental retardation, X-linked syndromic, Nascimento-type&UserType:SyndrRetard;" UBE3A "Gene:UBE3A&HGNC:12496&OMIM:601623&UserInfo:Angelman syndrome&UserType:SyndrRetard;" UBE3B "Gene:UBE3B&HGNC:13478&OMIM:608047&UserInfo:Kaufman oculocerebrofacial syndrome&UserType:SyndrRetard;" UBR1 "Gene:UBR1&HGNC:16808&OMIM:605981&UserInfo:Johanson-Blizzard syndrome&UserType:SyndrRetard;" UPB1 "Gene:UPB1&HGNC:16297&OMIM:606673&UserInfo:Beta-ureidopropionase deficiency&UserType:Metabolism;" UPF3B "Gene:UPF3B&HGNC:20439&OMIM:300298&UserInfo:Mental retardation, X-linked, syndromic 14&UserType:NonSyndrRetard;SyndrRetard;" USP18 "Gene:USP18&HGNC:12616&OMIM:607057&UserInfo:No OMIM phenotype&UserType:SyndrRetard;RetardPlusCerebAbnorm;Encephalo;" USP7 "Gene:USP7&HGNC:12630&OMIM:602519&UserInfo:No OMIM phenotype&UserType:NonSyndrRetard;" USP9X "Gene:USP9X&HGNC:12632&OMIM:300072&UserInfo:Mental retardation, X-linked 99 ; Mental retardation, X-linked 99, syndromic, female-restricted&UserType:NonSyndrRetard;SyndrRetard;" VLDLR "Gene:VLDLR&HGNC:12698&OMIM:192977&UserInfo:Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1&UserType:SyndrRetard;Neuro;" VPS13B "Gene:VPS13B&HGNC:2183&OMIM:607817&UserInfo:Cohen syndrome&UserType:SyndrRetard;" VRK1 "Gene:VRK1&HGNC:12718&OMIM:602168&UserInfo:Pontocerebellar hypoplasia type 1A&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" WAC "Gene:WAC&HGNC:17327&OMIM:615049&UserInfo:Desanto-Shinawi syndrome&UserType:NonSyndrRetard;SyndrRetard;" WDR13 Gene:WDR13&HGNC:14352&OMIM:300512&UserInfo:No OMIM phenotype&UserType: WDR19 "Gene:WDR19&HGNC:18340&OMIM:608151&UserInfo:?Cranioectodermal dysplasia 4 ; ?Short-rib thoracic dysplasia 5 with or without polydactyly ; Nephronophthisis 13 ; Senior-Loken syndrome 8&UserType:SyndrRetard;NonRetardButSyndr;" WDR45 "Gene:WDR45&HGNC:28912&OMIM:300526&UserInfo:Neurodegeneration with brain iron accululation 5&UserType:NonSyndrRetard;SyndrRetard;RetardPlusCerebAbnorm;Neuro;" WDR62 "Gene:WDR62&HGNC:24502&OMIM:613583&UserInfo:Microcephaly 2, primary, autosomal recessive, with or without cortical malformations&UserType:SyndrRetard;RetardPlusCerebAbnorm;" WDR73 "Gene:WDR73&HGNC:25928&OMIM:616144&UserInfo:Galloway-Mowat syndrome&UserType:SyndrRetard;RetardPlusCerebAbnorm;" WDR81 "Gene:WDR81&HGNC:26600&OMIM:614218&UserInfo:Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" WWOX "Gene:WWOX&HGNC:12799&OMIM:605131&UserInfo:Epileptic encephalopathy, early infantile, 28 ; Esophageal squamous cell carcinoma, somatic ; Spinocrebellar ataxia, autosomal recessive 12&UserType:SyndrRetard;RetardPlusCerebAbnorm;Neuro;" XPA "Gene:XPA&HGNC:12814&OMIM:611153&UserInfo:Xeroderma pigmentosum, group A&UserType:SyndrRetard;NonRetardButSyndr;" XPNPEP3 "Gene:XPNPEP3&HGNC:28052&OMIM:613553&UserInfo:Nephronophthisis-like nephropathy 1&UserType:SyndrRetard;NonRetardButSyndr;" XYLT1 "Gene:XYLT1&HGNC:15516&OMIM:608124&UserInfo:Desbuquois dysplasia 2 ; Pseudoxanthoma elasticum, modifier of severity of&UserType:SyndrRetard;" YAP1 "Gene:YAP1&HGNC:16262&OMIM:606608&UserInfo:Coloboma, ocular ; Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation&UserType:SyndrRetard;NonRetardButSyndr;" YWHAE Gene:YWHAE&HGNC:12851&OMIM:605066&UserInfo:No OMIM phenotype&UserType: YY1 Gene:YY1&HGNC:12856&OMIM:600013&UserInfo:No OMIM phenotype&UserType: ZBTB16 "Gene:ZBTB16&HGNC:12930&OMIM:176797&UserInfo:Leukemia, acute promyelocytic, PL2F/RARA type ; Skeletal defects, genital hypoplasia, and mental retardation&UserType:NonSyndrRetard;" ZBTB18 "Gene:ZBTB18&HGNC:13030&OMIM:608433&UserInfo:?Mental retardation, autosomal dominant 22&UserType:NonSyndrRetard;SyndrRetard;" ZC4H2 "Gene:ZC4H2&HGNC:24931&OMIM:300897&UserInfo:Wieacker-Wolff syndrome&UserType:SyndrRetard;RetardPlusCerebAbnorm;" ZDHHC15 "Gene:ZDHHC15&HGNC:20342&OMIM:300576&UserInfo:?Mental retardation, X-linked 91&UserType:SyndrRetard;" ZDHHC9 "Gene:ZDHHC9&HGNC:18475&OMIM:300646&UserInfo:Mental retardation, X-linked syndromic, Raymond type&UserType:NonSyndrRetard;SyndrRetard;" ZEB2 "Gene:ZEB2&HGNC:14881&OMIM:605802&UserInfo:Mowat-Wilson syndrome&UserType:SyndrRetard;" ZFYVE26 "Gene:ZFYVE26&HGNC:20761&OMIM:612012&UserInfo:Spastic paraplegia 15, autosomal recessive&UserType:SyndrRetard;Neuro;" ZIC2 "Gene:ZIC2&HGNC:12873&OMIM:603073&UserInfo:Holoprosencephaly 5&UserType:RetardPlusCerebAbnorm;" ZMPSTE24 "Gene:ZMPSTE24&HGNC:12877&OMIM:606480&UserInfo:Mandibuloacral dysplasia with type B lipodystrophy ; Restrictive dermopathy, lethal&UserType:SyndrRetard;NonRetardButSyndr;" ZMYND11 "Gene:ZMYND11&HGNC:16966&OMIM:608668&UserInfo:Mental retardation, autosomal dominant 30&UserType:NonSyndrRetard;SyndrRetard;" ZNF292 Gene:ZNF292&HGNC:18410&OMIM:616213&UserInfo:No OMIM phenotype&UserType: ZNF335 "Gene:ZNF335&HGNC:15807&OMIM:610827&UserInfo:?Microcephaly 10, primary, autosomal recessive&UserType:SyndrRetard;RetardPlusCerebAbnorm;" ZNF41 "Gene:ZNF41&HGNC:13107&OMIM:314995&UserInfo:No OMIM phenotype&UserType:NonSyndrRetard;" ZNF592 "Gene:ZNF592&HGNC:28986&OMIM:613624&UserInfo:No OMIM phenotype&UserType:SyndrRetard;Neuro;" ZNF674 "Gene:ZNF674&HGNC:17625&OMIM:300573&UserInfo:No OMIM phenotype&UserType:NonSyndrRetard;" ZNF711 Gene:ZNF711&HGNC:13128&OMIM:314990&UserInfo:Mental retardation, X-linked 97&UserType: ZNF81 "Gene:ZNF81&HGNC:13156&OMIM:314998&UserInfo:Mental retardation, X-linked 45&UserType:NonSyndrRetard;"