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Duane-radial ray syndrome
Summary
- Synonym
-
- DR syndrome
- Duane anomaly with radial ray abnormalities and deafness
- Okihiro syndrome
- acrorenocular 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0060747
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
