autosomal dominant nonsyndromic deafness 2A

Term ID

DOID:0110558

Synonyms

• autosomal dominant deafness 2A
• DFNA2A

Definition

An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2. https://www.ncbi.nlm.nih.gov/pubmed/10025409

References

• ICD10CM:H90.3
• OMIM:600101

Ontology

Human Disease   ( DOID:0110558 )