Developmental disorder | Gene(s) involved | Gene(s) function | Molecular cause | Number | Age range (years) |
---|---|---|---|---|---|
Angelman | UBE3A | Ubiquitin-protein ligase E3A | Imprinting, mutation | 14 | 1 to 55 |
Autism spectrum disorder (ASD) | – | – | – | 119 | 1.83 to 35.16 |
Alpha thalassemia/mental retardation X-linked syndrome (ATR-X) | ATRX | Chromatin remodeling | Mutation | 15 | 0.7 to 27 |
Claes-Jensen | KDM5C | H3K4 demethylase | Mutation | 10 | 2 to 42 |
Coffin-Lowry | RPS6KA3 | Serine/threonine kinase | Mutation | 10 | 1.3 to 22.8 |
Floating-Harbor | SRCAP | Chromatin remodeling | Mutation | 17 | 4 to 42 |
Fragile X syndrome (FXS) | FMR1 | Translational control | Mutation (CGG expansion) | 32 | 0.08 to 48 |
Kabuki | KMT2D | H3K4 methyltransferase | Mutation | 46 | 0 to 24.1 |
Noonan | PTPN11, RAF1, SOS1 | RAS/MAPK signaling | Mutation | 15, 11, 14 | 0.2 to 49 |
Rett | MECP2 | Transcriptional repression | Mutation | 15 | 1 to 34 |
Saethre-Chotzen | TWIST1 | Transcription factor | Mutation | 22 | 0 to 38 |
Sotos | NSD1 | H3K36 methyltransferase | Mutation | 20 | 1.6 to 41 |
Weaver | EZH2 | H3K27 methyltransferase | Mutation | 7 | 2.58 to 43 |