Metadata | |
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ID | DOID:0111641 |
Name | autosomal recessive nonsyndromic deafness 94 |
Definition | An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. https://www.ncbi.nlm.nih.gov/pubmed/25807530 |
Xrefs | |
Synonyms |
autosomal recessive deafness 94 [EXACT] DFNB94 [EXACT] |
Parent Relationships |