Term Name: Mowat-Wilson syndrome
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.
Ontology: Human Disease [DOID:0060485]   ( DOID:0060485 )

Relationships
is a type of: autosomal dominant disease syndrome