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autosomal dominant nonsyndromic deafness 20
Summary
- Synonym
-
- DFNA20
- DFNA26
- autosomal dominant deafness 20
- Definition
- An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25.
- Super Class
- autosomal dominant nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0110550
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P63261 | Actin, cytoplasmic 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000408 | Progressive sensorineural hearing impairment |
| HP:0011462 | Young adult onset |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0008619 | Bilateral sensorineural hearing impairment |
