autosomal dominant Robinow syndrome 3 (DOID:0060767)
Alliance: disease page
Synonyms: DRS3
Alt IDs: OMIM:616894, ORDO:3107, ORDO:97360
Definition: A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27.