autosomal recessive nonsyndromic deafness 1B

Term ID

DOID:0110476

Synonyms

• autosomal recessive deafness 1B
• DFNB1B

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 GJB6 gene on chromosome 13q12. https://www.ncbi.nlm.nih.gov/pubmed/11807148

References

• ICD10CM:H90.3
• OMIM:612645

Ontology

Human Disease   ( DOID:0110476 )