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References OMIM Gene GeneReviews HGMD HGNC
last update : 11-09-2018
Symbol DFNA64
Location 12q24.31
Name neurosensory deafness 64, dominant
Corresponding gene DIABLO
Main clinical features nonsyndromic sensorineural hearing loss, late onset
Genetic determination autosomal dominant
Function/system disorder
Type disease
Gene product
Name diablo
Remark(s) calcium-induced loss of the membrane potentialin mitochondria