autosomal dominant nonsyndromic deafness 3A

Term ID

DOID:0110564

Synonyms

• autosomal dominant deafness 3A
• DFNA3A

Definition

An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. https://www.ncbi.nlm.nih.gov/pubmed/9139825

References

• ICD10CM:H90.3
• OMIM:601544

Ontology

Human Disease   ( DOID:0110564 )