Disease-gene associations mined from literature

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