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 )

Relationships
is a type of: autosomal recessive disease syndrome