autosomal recessive nonsyndromic deafness 114

Term ID

DOID:0111642

Synonyms

• autosomal recessive deafness 114
• DFNB114

Definition

An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2. https://www.ncbi.nlm.nih.gov/pubmed/30610177

References

• OMIM:618456

Ontology

Human Disease   ( DOID:0111642 )