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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 06-12-2016
Symbol DFNA48
Location 12q13.3
HGNC id 18694
Name neurosensory deafness 48
Corresponding gene MYO1A
Main clinical features non syndromic
Genetic determination autosomal dominant
Function/system disorder ear
Type disease
Gene product
Name myosin IA
Remark(s)