Disorders associated with a collodion baby presentation

Disorder	Genetic basis
ARCI	TGM1, ALOXE3, ALOX12B, NIPAL4, ABCA12, CYP4F22
Anhidrotic ectodermal dysplasia	EDA, EDAR
Gaucher disease	GBA
Keratitis-ichthyosis-deafness	GJB2, GJB6
Trichothiodystrophy	ERCC2/XPD, ERCC3/XPB, GTF2H5
Sjögren-Larsson syndrome	ALDH3A2
Neutral lipid storage disease	ABHD5

ARCI: autosomal recessive congenital ichthyosis.

Graphic 90415 Version 3.0

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