autosomal recessive nonsyndromic deafness 76

Term ID

DOID:0110524

Synonyms

• autosomal recessive deafness 76
• DFNB76

Definition

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/23348741

References

• ICD10CM:H90.3
• OMIM:615540

Ontology

Human Disease   ( DOID:0110524 )