| Metadata | |
|---|---|
| ID | DOID:0110529 |
| Name | autosomal recessive nonsyndromic deafness 84A |
| Definition | An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21. https://www.ncbi.nlm.nih.gov/pubmed/20346435 |
| Xrefs | |
| Synonyms |
autosomal recessive deafness 84A [EXACT] autosomal recessive deafness 84A with vestibular dysfunction [EXACT] DFNB84A [EXACT] |
| Parent Relationships |