Term Name: | autosomal recessive nonsyndromic deafness 115 |
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Synonyms: | autosomal recessive deafness 115, DFNB115 |
Definition: | An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2. |
Ontology: | Human Disease [DOID:0111643] ( DOID:0111643 ) |