Human genes for autosomal dominant Robinow syndrome 3
Autosomal dominant Robinow syndrome 3 [DOID:0060767]
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.
Synonyms: autosomal dominant Robinow syndrome 3, DOID:0060767, DRS3