autosomal recessive nonsyndromic deafness 115

Term ID

DOID:0111643

Synonyms

• autosomal recessive deafness 115
• DFNB115

Definition

An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2. https://www.ncbi.nlm.nih.gov/pubmed/30973865

References

• OMIM:618457

Ontology

Human Disease   ( DOID:0111643 )