autosomal recessive nonsyndromic deafness 94

Term ID

DOID:0111641

Synonyms

• autosomal recessive deafness 94
• DFNB94

Definition

An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. https://www.ncbi.nlm.nih.gov/pubmed/25807530

References

• OMIM:618434

Ontology

Human Disease   ( DOID:0111641 )