autosomal recessive nonsyndromic deafness 22

Term ID

DOID:0110480

Synonyms

• autosomal recessive deafness 22
• DFNB22

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 OTOA gene on chromosome 16p12. https://www.ncbi.nlm.nih.gov/pubmed/11972037

References

• ICD10CM:H90.3
• OMIM:607039

Ontology

Human Disease   ( DOID:0110480 )