Term Name: autosomal recessive nonsyndromic deafness 115
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.
Ontology: Human Disease [DOID:0111643]   ( DOID:0111643 )

Relationships
is a type of: autosomal recessive nonsyndromic deafness