| Metadata | |
|---|---|
| ID | DOID:0111643 |
| Name | autosomal recessive nonsyndromic deafness 115 |
| 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 |
| Xrefs | |
| Synonyms |
autosomal recessive deafness 115 [EXACT] DFNB115 [EXACT] |
| Parent Relationships |