Hearing Loss Nonsyndromic Deafness (2) Erythrokeratodermia variabilis et progressive (EKVP)

Gene
GJB3
Location
1p34
Disease
Hearing Loss Nonsyndromic Deafness (2) Erythrokeratodermia variabilis et progressive (EKVP)
Description
Several conditions can cause hearing damage or loss in infants. Listed are the disorders caused by mutations in the GJB3 gene
Signs and Symptoms
(1) Damage to inner ear structure resulting in permanent hearing loss. (2) Symptoms include rough, thickened reddish- brown patches and patches of reddened skin.
Type
Other Disorders
Category
Core

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