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GENATLAS PHENOTYPE

last update : 04-04-2023

Symbol	DFNB116
Location	16p13.3
Name	deafness, autosomal recessive 116
Corresponding gene	CLDN9
Main clinical features	slowly progressive moderate to profound sensorineural hearing loss (SNHL), with a steeply sloping audiogram in the high frequencies asymmetric mild to profound hearing loss with childhood or adolescent onset gross motor development was normal
Genetic determination	autosomal recessive
Function/system disorder	ear
Type	malformation

Remark(s)