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Human Disease

autosomal recessive nonsyndromic deafness 94

Term ID
DOID:0111641
Synonyms
  • autosomal recessive deafness 94
  • DFNB94
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
References
Ontology
Human Disease   ( DOID:0111641 )
Relationships
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Genes Involved
Zebrafish Models