autosomal recessive nonsyndromic deafness 1A

Term ID

DOID:0110475

Synonyms

• autosomal recessive deafness 1A
• DFNB1A
• digenic deafness GJB2/GJB3
• digenic deafness GJB2/GJB6

Definition

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable 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
• MIM:220290

Ontology

Human Disease   ( DOID:0110475 )