Term Name: | Mowat-Wilson syndrome |
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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 ) |