Metadata | |
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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 |