Duane-radial ray syndrome

Term ID

DOID:0060747

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. (3)

References

• GARD:9182
• ICD10CM:Q87.8
• MIM:607323
• ORDO:93293

Ontology

Human Disease   ( DOID:0060747 )