Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 23/06/2006

Symbol	DFNB4
Location	7q22.3
Name	neurosensory deafness 4
Corresponding gene	SLC26A4
related resource	Genetics hearing impairment
Main clinical features	non syndromic associated with temporal abnormalities that range from isolated enlarged vestibular acqueduct to developmental abnormalities of cochlea (Mondini dysplasia), prelingual, stable, Middle Eastern Druze population
Genetic determination	autosomal recessive
Function/system disorder	ear
Type	disease

Gene product

Name	pendrin (SLC26A4)

Remark(s)