Entwicklungsstörungen

Entwicklungsstörungen / Mentale Retardierung

Erkrankung Gen

Aarskog-Scott Syndrom FGD1
Achondrogenesie 1B SLC26A2
Achondrogenesie 2 COL2A1
Achondroplasie FGFR3
Adrenogenitales Syndrom CYP21A2, CYP11B1, HSD3B2
Akrokallosales Syndrom GLI3
Akrozephalosyndaktylie Syndrome FGFR1, FGFR2
Alagille Syndrom JAG1, NOTCH2
Angelman Syndrom SNRPN, UBE3A
Apert Syndrom FGFR2
ARX-assoziierte Erkrankungen   ARX
Atelosteogenesis Typ 2 SLC26A2
Beare-Stevenson Syndrom FGFR2
Beckwith-Wiedemann Syndrom CDKN1C
BOR Syndrom EYA1, SIX1
CHARGE-Syndrom CHD7, SEMA3E
Coffin-Lowry Syndrom RSK2
Cohen Syndrom COH1
Cornelia de Lange Syndrom NIPBL, SMC1A (SMC1L1), SMC3
Costello Syndrom   HRAS
Cri du Chat Syndrom -
Crouzon Syndrom FGFR2
Diastrophe Dysplasie SLC26A2
Di George Syndrom TBX1
epiphysäre Dysplasie, rezessive multiple SLC26A2
FG-Syndrom MED12
Fra(X) Syndrom FMR1
Greig-Zephalopolysyndaktylie Syndrom GLI3
Holoprosenzephalie SHH, ZIC2, SIX3, TGIF, GLI2
Holt-Oram Syndrom TBX5, SALL4
Hutchinson-Gilford Progerie Syndrom LMNA
Hydrocephalus, X-chromosomal L1CAM
Hypochondroplasie FGFR3
Ichthyose, X-gebunden STS
Jackson-Weiss Syndrom FGFR2
Kallmann Syndrom KAL1, FGFR1
Kardiofaziokutanes Syndrom   BRAF, MAP2K1, MAP2K2, KRAS
Kraniosynostose Syndrome FGFR1, FGFR2, FGFR3, MSX2
L1 Syndrom L1CAM
Langer-Giedion Syndrom -
Langer Syndrom SHOX
LEOPARD Syndrom PTPN11, RAF1, BRAF
Leri-Weill Dyschondrosteose SHOX
Lissenzephalie LIS PAFAH1B1, TUBA1A, DCX, ARX
Lujan-Fryns Syndrom MED12
Mabry Syndrom PIGV
Mandibuloakrale Dysplasie (MAD) LMNA
MASA Syndrom L1CAM
Mikrodeletionssyndrom 1p36 -
Mikrodeletionssyndrom 17q12 -
Mikrodeletionssyndrom 22q11.2 TBX1
Mikrodeletionssyndrom 22q13.3 -
Miller-Dieker Lissenzephalie PAFAH1B1
Morbus Hirschsprung RET, EDN3, EDNRB, SOX10, ZEB2
Mowat Wilson Syndrom ZEB2
Muenke Syndrom FGFR3
Multiple hereditäre Exostosen EXT1, EXT2
Noonan Syndrom PTPN11, KRAS, SOS1, RAF1, NRAS, BRAF
Noonanähnliches Syndrom  SHOC2
Okihiro Syndrom SALL4
Opitz-Kaveggia Syndrom MED12
Opitz-Syndrom MID1
Pallister-Hall Syndrom GLI3
Pendred Syndrom SLC26A4
Pfeiffer Syndrom FGFR1
Pitt-Hopkins Syndrom  TCF4
Potocki-Lupski Syndrom RAI1
Potocki-Shaffer Syndrom -
Prader-Willi Syndrom SNRPN
Rett Syndrom MECP2, CDKL5, FOXG1
Rubinstein-Taybi Syndrom CREBBP
Saethre-Chotzen Syndrom TWIST1
Schizenzephalie EMX2
Silver-Russel Syndrom -
Simpson-Golabi-Behmel Syndrom Typ I GPC3
Smith-Lemli-Opitz Syndrom DHCR7
Smith-Magenis Syndrom RAI1
Sotos Syndrom NSD1
Subtelomerscreening -
Thanatophore Dysplasie FGFR3
Tricho-rhino-phalangeales Syndrom TRPS1
Uniparentale Disomie -
Waardenburg Syndrom PAX3, MITF, EDNRB, EDN3, SOX10
WAGR Syndrom -
Williams-Beuren Syndrom ELN
Wolf-Hirschhorn Syndrom -
Xq28 Duplikationssyndrom MECP2