| Term Name: | autosomal recessive nonsyndromic deafness 100 |
|---|---|
| Synonyms: | autosomal recessive deafness 100, DFNB100 |
| Definition: | An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1. |
| Ontology: | Human Disease [DOID:0111638] ( DOID:0111638 ) |