Term Name: | Duane-radial ray syndrome |
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Synonyms: | acrorenocular syndrome, DR syndrome, Duane anomaly with radial ray abnormalities and deafness, Okihiro syndrome |
Definition: | A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13. |
Ontology: | Human Disease [DOID:0060747] ( DOID:0060747 ) |