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GENATLAS PHENOTYPE

last update : 29-03-2023

Symbol	DFNB112
Location	5q13.2
Name	neurosensory deafness 112
Corresponding gene	BDP1
Main clinical features	postlingual progressive sensorineural hearing impairment, early-onset initially involved mild loss of medium and high frequencies, but gradually progressed to include low frequencies, with moderate to severe loss of medium and high frequencies; no apparent syndromic features
Genetic determination	autosomal recessive
Function/system disorder	ear
Type	disease

Remark(s)