TWIST2

twist family bHLH transcription factor 2
OMIM: 607556
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ABLEPHARON MACROSTOMIA SYNDROME 200110, SETLEIS SYNDROME 227260
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ABLEPHARON MACROSTOMIA SYNDROME, SETLEIS SYNDROME, Ablepharon-macrostomia syndrome, 200110, Barber-Say syndrome, 209885