Intellectual disability (OMIM #) | Gene symbol | SFARI rating | Autism comorbidity | References | Epilepsy frequency |
---|---|---|---|---|---|
Adenylosuccinase Deficiency (#103050) | ADSL | S | 38 % (N = 8) | Jaeken et al. 1988 [36] | Common |
Alpha-thalassemia/Mental Retardation Syndrome (#301040) | ATRX | 6 | 27 %, males (N = 73) | Wada and Gibbons 2003 [37] | Common |
Angelman Syndrome (#105830) | UBE3A | S | 79 % (N = 39) | Bonati et al. 2007 [38] | Common |
Trillingsgaard and Østergaard 2004 [39] | |||||
Autosomal Dominant Mental Retardation 1 (#156200) | MBD5 | 3S | 100 % (N = 14) | Talkowski et al. 2011 [40] | Common |
Autosomal Dominant Mental Retardation 5 (#612621) | SYNGAP1 | 1S | 60 % (N = 10) | Hamdan et al. 2011 [41] | Common |
Carvill et al. 2013 [42] | |||||
Berryer et al. 2013 [43] | |||||
Autosomal Dominant Mental Retardation 12 (#614562) | ARID1B | S | 63 % (N = 8) | Halgren et al. 2012 [44] | Variable |
Autosomal Dominant Mental Retardation 23 (#615761) | SETD5 | 1S | ≤71 % (N = 7) | Grozeva et al. 2014 [45] | No evidence |
Autosomal Dominant Mental Retardation 24 (#615828) | DEAF1 | 2S | 75 % (N = 4) | Vulto-van Silfhout et al. 2014 [46] | No evidence |
Autosomal Dominant Mental Retardation 26 (#615834) | AUTS2 | 3 | 41 % (N = 17) | Beunders et al. 2013 [47] | Variable |
Autosomal Dominant Mental Retardation 30 (#616083) | ZMYND11 | 3 | 29 % (N = 7) | Coe et al. 2014 [48] | Variable |
Autosomal Recessive Mental Retardation 3 (#608443) | CC2D1A | 3 | 31 % (N = 16) | Manzini et al. 2014 [49] | Variable |
Autosomal Recessive Mental Retardation 38 (#615516) | HERC2 | NS | 86 % (N = 7) | Puffenberger et al. 2012 [50] | Common |
Athabaskan Brainstem Dysgenesis Syndrome (#601536) | HOXA1 | S | 22 % (N = 9) | Tischfield et al. 2005 [51] | Variable |
Branched-chain Ketoacid Dehydrogenase Kinase Deficiency (#614923) | BCKDK | 3 | 100 % (N = 6) | Novarino et al. 2012 [52] | Variable |
Brunner Syndrome (#300615) | MAOA | 4 | 71 %, males (N = 7) | Piton et al. 2014 [53] | Uncommon |
Palmer et al. 2016 [54] | |||||
Cardiofaciocutaneous Syndrome 1 (#115150) | BRAF | NS | 20 % (N = 15) | Nava et al. 2007 [55] | Common |
Cardiofaciocutaneous Syndrome 3 (#615279) | MAP2K1 | NI | 63 % (N = 8) | Nava et al. 2007 [55] | Common |
Cerebral Creatine Deficiency Syndrome 1 (#300352) | SLC6A8 | 4 | 68 % (N = 28) | Dunbar et al. 2014 [56] | Common |
Cerebral Creatine Deficiency Syndrome 2 (#612736) | GAMT | NI | 43 % (N = 7) | Cheillan et al. 2012 [57] | Common |
Cerebral Creatine Deficiency Syndrome 3 (#612718) | GATM | NS | 35 % (N = 20) | Mercimek-Mahmutoglu et al. 2014 [58] | Variable |
CHARGE Syndrome (#214800) | CHD7 | S | 60 % (N = 10) | Smith et al. 2005 [59] | Variable |
Childhood-onset Epileptic Encephalopathy (#615369) | CHD2 | 2S | 50 % (N = 6) | Chénier et al. 2014 [60] | Common |
Christian-type of X-linked Syndromic Mental Retardation (#300243) | SLC9A6 | S | 89 %, males (N = 9) | Pescosolido et al. 2014 [61] | Common |
Chromosome 2p16.3 Deletion Syndrome (#614332) | NRXN1 | 2 | 50 % (N = 40) | Dabell et al. 2013 [62] | Variable |
Schaaf et al. 2012 [63] | |||||
Cohen Syndrome (#216550) | VPS13B | S | 49 % (N = 45) | Howlin et al. 2005 [64] | Common |
Congenital Rett Syndrome (#613454) | FOXG1 | 5 | 100 % (N = 26) | Kortüm et al. 2011 [65] | Common |
Cornelia de Lange Syndrome 1-5 (#122470, 300590, 610759, 614701, 300882) | NIPBL | NI | 62 % (N = 34) | Moss et al. 2008 [66] | Variable |
SMC1A | |||||
SMC3 | |||||
RAD21 | |||||
HDAC8 | |||||
Early Infantile Epileptic Encephalopathy 4 (#612164) | STXBP1 | NS | 29 % (N = 7) | Barcia et al. 2014 [67] | Common |
Early Infantile Epileptic Encephalopathy 6 (#607208) | SCN1A | S | 24 % (N = 37) | Li et al. 2011 [68] | Common |
Early Infantile Epileptic Encephalopathy 9 (#300088) | PCDH19 | S | 22 %, females (N = 27) | Scheffer et al. 2008 [69] | Common |
Early Infantile Epileptic Encephalopathy 24 (#615871) | HCN1 | NS | 66 % (N = 6) | Nava et al. 2014 [70] | Common |
Fragile X Mental Retardation Syndrome (#300624) | FMR1 | S | 45 % (N = 64) | Clifford et al. 2007 [71] | Common |
Glass Syndrome (#612313) | SATB2 | 4 | 29 % (N = 7) | Balasubramanian et al. 2011 [72] | Common |
Helsmoortel-Van der AA Syndrome (#615873) | ADNP | 1 | 100 % (N = 11) | Helsmoortel et al. 2014 [73] | Common |
Pescosolido et al. 2014 [61] | |||||
KBG Syndrome (#148050) | ANKRD11 | 33 % (N = 9) | Ockeloen et al. 2014 [74] | Uncommon | |
Kleefstra Syndrome (#610253) | EHMT1 | 3S | most, % unknown (N = 20) | Willemsen et al. 2012 [75] | Common |
Lowe Oculocerebrorenal Syndrome (#309000) | OCRL | NS | 71 %, males (N = 52) | Oliver et al. 2011 [76] | Common |
Lubs X-linked Mental Retardation Syndrome (#300260) | MECP2 | S | 100 %, males (N = 18) | Ramocki et al. 2009 [77] | Common |
Lujan-Fryns Syndrome (#309520) | MED12 | 6 | ≤62 %, males (N = 32) | Williams 2006 [78] | Common |
Marshall-Smith Syndrome (#602535) | NFIX | NI | 83 % (N = 6) | van Balkom et al. 2011 [79] | Variable |
Mental Retardation with Language Impairment and Autistic Features (#613670) | FOXP1 | 3 | 75 % (N = 4) | Le Fevre et al. 2013 [80] | Variable |
Mowat-Wilson Syndrome (#235730) | ZEB2 | NI | 40 % (N = 6) | Evans et al. 2012 [81] | Common |
Mucopolysaccharidosis, Type IIIA (#252900) | SGSH | NI | 29 % (N = 73) | Héron et al. 2011 [82] | Common |
Muscular Dystrophy-dystroglycanopathy (Congenital with Mental Retardation), Type B3 (#613151) | POMGNT1 | NS | 22 % (N = 9) | Hehr et al. 2007 [83] | Variable |
Myhre Syndrome (#139210) | SMAD4 | NS | 25 % (N = 8) | Caputo et al. 2012 [84] | Variable |
Myotonic Dystrophy 1 (#160900) | DMPK | S | 49 % (N = 57) | Ekström et al. 2008 [85] | Variable |
Neurodegeneration due to Cerebral Folate Transport Deficiency (#613068) | FOLR1 | NI | 35 % (N = 20) | Ramaekers and Blau 2004 [86] | Common |
Steinfeld et al. 2009 [87] | |||||
Nicolaides-Baraitser Syndrome (#601358) | SMARCA2 | NI | 28 % (N = 18) | Sousa et al. 2009 [88] | Common |
Noonan Syndrome 3 (#609942) | KRAS | NI | 33 % (N = 6) | Nava et al. 2007 [55] | Uncommon |
Nonphotosensitive Trichothiodystrophy 1 (#234050) | MPLKIP | NI | 60 % (N = 5) | Heller et al. 2015 [89] | Variable |
Noonan Syndrome 3 (#609942) | KRAS | NI | 33 % (N = 6) | Nava et al. 2007 [55] | Variable |
Norrie Disease (#310600) | NDP | NI | 27 %, males (N = 56) | Smith et al. 2012 [90] | Uncommon |
Phelan-McDermid Syndrome (#606232) | SHANK3 | 1S | 52 % (N = 130) | Phelan et al. 2001 [91] | Common |
Cusmano-Ozog et al. 2007 [92] | |||||
Dhar et al. 2010 [93] | |||||
Pitt-Hopkins Syndrome (#610954) | TCF4 | NS | 75 % (N = 8) | van Balkom et al. 2011 [79] | Vommon |
Renpenning Syndrome 1 (#309500) | PQBP1 | NI | 38 %, males (N = 13) | Germanaud et al. 2011 [94] | Variable |
Rett Syndrome (#312750) | MECP2 | S | 100 %, females (N = 35) | Hagberg et al. 1983 [95] | Common |
Schaaf-Yang Syndrome (#615547) | MAGEL2 | NS | 100 % (N = 6) | Schaaf et al. 2013 [96] | Common |
Soden et al. 2014 [97] | |||||
Smith-Lemli-Opitz Syndrome (#270400) | DHCR7 | S | 75 % (N = 14) | Sikora et al. 2006 [98] | Common |
Smith-Magenis Syndrome (#182290) | RAI1 | S | 90 % (N = 26) | Laje et al. 2010 [99] | Common |
Temtamy Syndrome (#218340) | C12orf57 | NS | 100 % (N = 10) | Akizu et al. 2013 [100] | Common |
Tuberous Sclerosis 2 (#613254) | TSC2 | S | 40 % (N = 103) | Numis et al. 2011 [101] | Common |
Warburg Micro Syndrome 4 (#615663) | TBC1D20 | NI | 100 % (N = 7) | Liegel et al. 2013 [102] | Common |
Wiedemann-Steiner Syndrome (#605130) | KMT2A | 2S | 33 % (N = 6) | Jones et al. 2012 [103] | Variable |
Wu Type of X-linked Syndromic Mental Retardation (#300699) | GRIA3 | NI | 32 %, males (N = 6) | Philips et al. 2014 [104] | Common |
X-linked Mental Retardation 1 (#309530) | IQSEC2 | NI | 55 %, males (N = 9) | Tran Mau-Them et al. 2013 [105] | Uncommon |
Shoubridge et al. 2010 [106] | |||||
X-linked Mental Retardation 72 (#300271) | RAB39B | 4 | 33 %, males (N = 9) | Russo et al. 2000 [107] | Common |
Giannandrea et al. 2010 [108] | |||||
X-linked Mental Retardation 98 (#300912) | KIAA2022 | NS | 43 %, males (N = 7) | van Maldergem et al. 2013 [109] | Common |
X-linked Mental Retardation with or without Seizures (#300419) | ARX | S | 50 %, males (N = 6) | Turner et al. 2002 [110] | Variable |
X-linked Syndromic Mental Retardation 14 (#300676) | UPF3B | S | 50 %, males (N = 8) | Tarpey et al. 2007 [111] | Variable |