autosomal recessive nonsyndromic deafness 113

Term ID

DOID:0111636

Synonyms

• autosomal recessive deafness 113
• DFNB113

Definition

An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/29703829

References

• MIM:618410

Ontology

Human Disease   ( DOID:0111636 )