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GENATLAS PHENOTYPE

last update : 04-07-2017

Symbol	ARCI12
Location	19p13.12
Name	congenital ichthyosis, autosomal recessive 12
Corresponding gene	CASP14
Main clinical features	characterized primarily by abnormal skin scaling over the whole body main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family
Genetic determination	autosomal recessive
Function/system disorder	dermatology
Type	disease

Remark(s)