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GENATLAS PHENOTYPE
last update : 30/03/2006
Symbol DFNB29
Location 21q22.13
Name neurosensory deafness 29
Corresponding gene CLDN14
Main clinical features profound, congenital, Pakistani kindreds
Genetic determination autosomal recessive
Function/system disorder ear
Type disease
Gene product
Name claudin 14
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
missense   absent protein  
Remark(s)