autosomal dominant nonsyndromic deafness 87

Term ID

DOID:0070606

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. https://pubmed.ncbi.nlm.nih.gov/33358777/

References

• MIM:620281

Ontology

Human Disease   ( DOID:0070606 )