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GENATLAS PHENOTYPE
last update : 11-04-2022
Symbol DFNB99
Location 17q12
Name deafness, autosomal recessive 99
Corresponding gene TMEM132E
Main clinical features prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction
Genetic determination autosomal recessive
Function/system disorder ear
Type disease
Remark(s)