Autozomal dominantă
Sindromul Mowat-Wilson (MWS) este un sindrom cu anomalii congenitale multiple, caracterizat printr-un fenotip facial distinct, deficiență intelectuală, epilepsie, boala Hirschsprung (HSCR) și malformații congenitale variabile.
Gene analizate
Denumită și
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
Include 2 subtipuri înrudite ↓Ascunde subtipurile ↑
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
