Term Name: | autosomal recessive nonsyndromic deafness 100 |
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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 ) |