| Term Name: | Davis-Wells syndrome |
|---|---|
| Synonyms: | |
| Definition: | A syndrome characterized by mild cognitive impairment, dysmorphism featuring oculoauricular abnormalities, and developmental defects involving genitourinary and digestive tracts that has_material_basis_in homozygous or compound heterozygous mutation in the CACHD1 gene on chromosome 1p31. |
| Ontology: | Human Disease [DOID:0070692] ( DOID:0070692 ) |