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Metadata
ID DOID:0110558
Name autosomal dominant nonsyndromic deafness 2A
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
Xrefs

ICD10CM:H90.3

OMIM:600101

Synonyms

autosomal dominant deafness 2A [EXACT]

DFNA2A [EXACT]

Parent Relationships

is_a autosomal dominant nonsyndromic deafness

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