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ZIRC
OBO ID: DOID:0060485
Term Name: Mowat-Wilson syndrome Search Ontology:
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. (2)
References:
Ontology: Human Disease   (DOID:0060485)
OTHER Mowat-Wilson syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ZEB2 Mowat-Wilson syndrome 235730
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (2)