Term Name: autosomal dominant Robinow syndrome 3
Synonyms: DRS3
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.
Ontology: Human Disease [DOID:0060767]   ( DOID:0060767 )

Relationships
is a type of: autosomal dominant disease Robinow syndrome