| Erkrankung | Gen(e) |
|---|
| Angelman Syndrom | 15q11.2-q13 CDKL5 MECP2 UBE3A |
| Autismus | ADSL AFF2 AP1S2 ARX ATRX BCKDK BRAF CACNA1C CASK CHD7 CHD8 CNTNAP2 CREBBP DEL16p11.2 DELXp22.11 DELXp22.11 DHCR7 DXS423E EHMT1 FGD1 FMR1 FOLR1 FOXG1 FOXP1 FOXP2 GABRB3 HPRT1 KDM5C L1CAM MBD5 MECP2 MECP2 MECP2 MED12 MEF2C MID1 NHS NIPBL NLGN3 NLGN4 NLGN4 NR1I3 NRXN1 NSD1 OPHN1 PAFAH1B1 PCDH19 PHF6 PNKP PQBP1 PTEN PTPN11 RAB39B RAI1 RELN RPL10 SCN1A SHANK2 SLC2A1 SLC35A3 SLC9A6 SLC9A9 SMARCB1 TCF4 TMLHE UBE2A UBE3A VPS13B ZEB2 |
| Cornelia de Lange Syndrom | CSPG6/SMC3 DXS423E/SMC1L1 HDAC8 NIPBL RAD21 |
| DiGeorge Syndrom | DEL22q11.2 |
| Fragiles X Syndrom | AFF2 FMR1 |
| Gehirnentwicklungsstörungen | AKT3 GPR56 KIF2A KIF5C OCLN PIK3CA PIK3R2 TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBB31 TUBG1 |
| Lujan-Fryns/ Opitz-Kaveggia Syndrom | MED12 |
| Mentale Retardierung unspezifisch | ADAT3 ANK3 ARID1A ARID1B CACNG2 CC2D1A CDH15 CRADD CRBN CTCF DEL1q43q44 DOCK8 DYNC1H1 DYRK1A EHMT1 EPB41L1 GRIK2 GRIN1 GRIN2B HERC2 KANSL1 KIF1A KIRREL3 KPTN LINS1 MAN1B1 MBD5 MED23 MEF2C MEF2C NSUN2 PACS1 PGAP1 PRSS12 SETD5 SMARCA4 SMARCB1 ST3GAL3 SYNGAP1 TAF2 TECR TRAPPC9 TTI2 TUSC3 ZBTB18 |
| Mentale Retardierung X-chromosomal | ACSL4 AFF2 AP1S2 ARHGEF6 ARX BRWD3 DLG3 FGD1 FTSJ1 GDI1 GRIA3 HCFC1 HSD17B10 IL1RAPL1 IQSEC2 KDM5C KIAA2022 NLGN4 OPHN1 PAK3 RAB39B RPS6KA3 SLC9A6 SYP TEX28 TSPAN7 UBE2A ZDHHC15 ZNF711 ZNF81 |
| Mowat-Wilson Syndrom | ZEB2 |
| Neuroferritinopathie | C19orf12 COASY FTL PANK2 PLA2G6 WDR45 |
| Niemann-Pick-Krankheit | NPC1 NPC2 SMPD1 |
| Noonan Syndrom | BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS PTPN11 RAF1 RIT1 SOS1 |
| Pitt-Hopkins Syndrom | CNTNAP2 NRXN1 TCF4 |
| Prader-Willi Syndrom | 15q11-q13 MAGEL2 NDN SNRPN |
| Rett Syndrom | FOXG1 MECP2 |