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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

MIM:618457

Synonyms

autosomal recessive deafness 115 [EXACT]

DFNB115 [EXACT]

Parent Relationships

is_a autosomal recessive nonsyndromic deafness

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