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

• GARD:9673
• MESH:C536990
• NCI:C74999
• OMIM:235730
• ORDO:2152
• SNOMEDCT_US_2023_03_01:703535000
• UMLS_CUI:C1856113

Ontology

Human Disease   ( DOID:0060485 )