Autozomálně dominantní
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.
Analyzované geny
Známé také jako
Hirschsprung disease intellectual disability syndrome; Hirschsprung disease-mental retardation syndrome; intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease; mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease; microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease; MOWS
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
