autosomal recessive nonsyndromic deafness 12

Term ID

DOID:0110467

Synonyms

• autosomal recessive deafness 12
• DFNB12

Definition

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22. https://www.ncbi.nlm.nih.gov/pubmed/11090341

References

• ICD10CM:H90.3
• OMIM:601386

Ontology

Human Disease   ( DOID:0110467 )