Term Name: | autosomal dominant Robinow syndrome 1 |
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Synonyms: | DRS1 |
Definition: | A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. |
Ontology: | Human Disease [DOID:0060766] ( DOID:0060766 ) |