Term Name: | autosomal recessive nonsyndromic deafness 99 |
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Synonyms: | autosomal recessive deafness 99, DFNB99 |
Definition: | An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12. |
Ontology: | Human Disease [DOID:0111634] ( DOID:0111634 ) |