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Mowat-Wilson syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0060485
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51689 | Arylsulfatase D |
