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References OMIM Gene GeneReviews HGMD HGNC
last update : 18-01-2012
Symbol DFNB63
Location 11q13.4
HGNC id 20963
Name neurosensory deafness 63
Corresponding gene LRTOMT
Main clinical features congenital profound sensori-neural hearing loss
Genetic determination autosomal recessive
Prevalence 1.7 p100 of all DFNB (PMID: 21117948)
Function/system disorder ear
Type disease
Gene mutationChromosome rearrangementEffectComments
missense   abnormal protein/loss of function  
Remark(s) enzymatic activity is significantly reduced by the missense mutation, suggesting that a defect in catecholamine catabolism underlies the auditory and vestibular phenotypes