autosomal recessive nonsyndromic deafness 112

Term ID

DOID:0111637

Synonyms

• autosomal recessive deafness 112
• DFNB112

Definition

An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2. https://www.ncbi.nlm.nih.gov/pubmed/24312468

References

• OMIM:618257

Ontology

Human Disease   ( DOID:0111637 )