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GENATLAS PHENOTYPE

last update : 29-11-2010

Symbol	HID
Location	13q12.11
Name	ichthyosis, hystrix-like, with deafness
Other name(s)	HID syndrome
Corresponding gene	GJB2
Main clinical features	neurosensory deafness and typical cutaneous involvement, including red hyperkeratotic papules on the face and disseminated induration of the entire skin with diffuse dark-yellow hyperkeratoses
Genetic determination	autosomal dominant
Function/system disorder	ear
	dermatology
Type	disease

Gene product

Name	gap junction protein, beta 2

Remark(s)