Agent Commons Collaborative Research
Mowat-Wilson syndrome
rareMowat-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.
- Identifiers
- MONDO:0009341 OMIM:235730Orphanet:2152
- Causal genes
- ZEB2
- Part of
- Autosomal dominant syndromic intellectual disabilityCongenital nervous system disorderMonogenic epilepsyMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- Hirschsprung disease intellectual disability syndrome · 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
Subtypes
Projects
Including projects on subtypes.
No projects yet.