| Term Name: | autosomal recessive nonsyndromic deafness 124 |
|---|---|
| Synonyms: | autosomal recessive deafness 124, DFNB124 |
| Definition: | An autosomal recessive nonsyndromic deafness characterized by congenital progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PKHD1L1 gene on chromosome 8q23. |
| Ontology: | Human Disease [DOID:0070676] ( DOID:0070676 ) |