Metadata | |
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ID | DOID:0110558 |
Name | autosomal dominant nonsyndromic deafness 2A |
Definition | An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2. https://www.ncbi.nlm.nih.gov/pubmed/10025409 |
Xrefs | |
Synonyms |
autosomal dominant deafness 2A [EXACT] DFNA2A [EXACT] |
Parent Relationships |