Term Name: | autosomal dominant Robinow syndrome 2 |
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Synonyms: | DRS2 |
Definition: | A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. |
Ontology: | Human Disease [DOID:0060765] ( DOID:0060765 ) |