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GENATLAS PHENOTYPE |
last update : 02-11-2009 |
Symbol | NCIE4 |
Location | 2q35 |
Name | ichthyosiform erythroderma, congenital, nonbullous, 4 |
Corresponding gene | ABCA12 |
Main clinical features | characterized by ichthyosis in an erythema background with fine white scaling, collodion babies at birth, liver steatosis with hepatomegaly lipid droplets in granulocytes and in most tissues |
Genetic determination | autosomal recessive |
Function/system disorder | dermatology |
Type | disease |
Remark(s) |