Term Name: | autosomal dominant Robinow syndrome 3 |
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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 ) |