Term Name: autosomal dominant Robinow syndrome 1
Synonyms: DRS1
Definition: A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p.
Ontology: Human Disease [DOID:0060766]   ( DOID:0060766 )

Relationships
is a type of: autosomal dominant disease Robinow syndrome