Search Ontology:
Human Disease

Mowat-Wilson syndrome

Term ID
DOID:0060485
Synonyms
  • Hirschsprung disease mental retardation syndrome
  • microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease
Definition
A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. (3)
References
Ontology
Human Disease   ( DOID:0060485 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models