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branchiootorenal syndrome
Summary
- Synonym
-
- Branchio-Oto-renal syndrome
- Branchio-otorenal dysplasia
- Melnick-Fraser syndrome
- branchiootorenal dysplasia
- Definition
- A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities.
- Super Class
- autosomal dominant disease syndrome
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15475 | Homeobox protein SIX1 |
