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GENATLAS PHENOTYPE

last update : 04-04-2023

Symbol	DFNB118
Location	8q22.1
Name	deafness, autosomal recessive 118, with cochlear aplasia
Corresponding gene	GDF6
Main clinical features	congenital profound sensorineural hearing loss and cochlear aplasia CT and MRI imaging of the temporal bone revealed complete absence of the cochlea with normal vestibular systems
Genetic determination	autosomal recessive
Function/system disorder	ear
Type	disease

Remark(s)