Term Name: autosomal dominant nonsyndromic deafness 87
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 )

Relationships
is a type of: autosomal dominant nonsyndromic deafness