autosomal dominant nonsyndromic deafness 44

Term ID

DOID:0110569

Synonyms

• autosomal dominant deafness 44
• DFNA44

Definition

An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28. https://www.ncbi.nlm.nih.gov/pubmed/17503326

References

• ICD10CM:H90.3
• OMIM:607453

Ontology

Human Disease   ( DOID:0110569 )