Otozomal dominant
Mowat-Wilson sendromu (MWS), belirgin bir yüz fenotipi, entelektüel yetersizlik, epilepsi, Hirschsprung hastalığı (HSCR) ve değişken konjenital malformasyonlarla karakterize, çoklu konjenital anomali sendromudur.
Analiz edilen genler
Diğer adları
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
2 ilgili alt tip içerir ↓Alt tipleri gizle ↑
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
