autosomal dominant Robinow syndrome 1 (DOID:0060766)
Alliance: disease page
Synonyms: DRS1
Alt IDs: OMIM:180700, ORDO:3107
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.