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autosomal recessive nonsyndromic deafness 115
Summary
- Synonym
-
- DFNB115
- autosomal recessive 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.
- Super Class
- autosomal recessive nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0111643
- Mondo Disease Ontology
- OMIM
