Term Name: | autosomal dominant nonsyndromic deafness 87 |
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Synonyms: | autosomal dominant deafness 87, DFNA87 |
Definition: | An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21. |
Ontology: | Human Disease [DOID:0070606] ( DOID:0070606 ) |