Human | SLC38A5 | 92745 | solute carrier family 38, member 5 | A 50kb deletion at Xp11.23 including the two genes, SLC38A5 and FTSJ1 was found in 3 brothers with moderate to severe mental retardation |
Human | PHF6 | 84295 | PHD finger protein 6 | Severe mental retardation (IQ 10-40) |
Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | Severe mental retardation |
Human | SLC35C1 | 55343 | solute carrier family 35 (GDP-fucose transporter), member C1 | Severe mental retardation |
Human | CC2D1A | 54862 | coiled-coil and C2 domain containing 1A | A protein truncating mutation was identified in the gene CC2D1A in nine consanguineous families with severe autosomal recessive mental retardation |
Human | POMT2 | 29954 | protein-O-mannosyltransferase 2 | Our results broaden the clinical spectrum associated with POMT2 mutations, which should be considered in patients with CMD associated with microcephaly, and severe mental retardation with or without ocular involvement |
Human | SRGAP3 | 9901 | SLIT-ROBO Rho GTPase activating protein 3 | putative role in severe mental retardation |
Human | PREPL | 9581 | prolyl endopeptidase-like | however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) |
Human | PEX3 | 8504 | peroxisomal biogenesis factor 3 | Severe mental retardation |
Human | WHSC1 | 7468 | Wolf-Hirschhorn syndrome candidate 1 | Severe mental retardation |
Human | UBE3A | 7337 | ubiquitin protein ligase E3A | Severe mental retardation |
Human | SLC3A1 | 6519 | solute carrier family 3 (amino acid transporter heavy chain), member 1 | however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) |
Human | PEX5 | 5830 | peroxisomal biogenesis factor 5 | Severe mental retardation |
Human | PEX19 | 5824 | peroxisomal biogenesis factor 19 | Severe mental retardation |
Human | PEX14 | 5195 | peroxisomal biogenesis factor 14 | Severe mental retardation |
Human | PEX13 | 5194 | peroxisomal biogenesis factor 13 | Severe mental retardation |
Human | PEX10 | 5192 | peroxisomal biogenesis factor 10 | Severe mental retardation |
Human | PEX1 | 5189 | peroxisomal biogenesis factor 1 | Severe mental retardation |
Human | MYF6 | 4618 | myogenic factor 6 (herculin) | 20% have more severe mental retardation |
Human | MGAT2 | 4247 | mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase | Severe mental retardation |
Human | MECP2 | 4204 | methyl CpG binding protein 2 (Rett syndrome) | Severe mental retardation Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males |
Human | HCCS | 3052 | holocytochrome c synthase | Mild to severe mental retardation (24%) |
Human | GLI3 | 2737 | GLI family zinc finger 3 | Severe mental retardation |
Human | GCH1 | 2643 | GTP cyclohydrolase 1 | Severe mental retardation |
Human | DMPK | 1760 | dystrophia myotonica-protein kinase | Severe mental retardation (congenital form) |