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autosomal recessive nonsyndromic deafness 12
Summary
- Synonym
-
- DFNB12
- autosomal recessive deafness 12
- Definition
- An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22.
- Super Class
- autosomal recessive nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0110467
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H251 | Cadherin-23 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q99PF4 | Cadherin-23 |
