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GENATLAS PHENOTYPE

last update : 08-03-2017

Symbol	ARCL4A
Location	3q13.31
Name	cutis laxa, autosomal recessive, type IVA
Corresponding gene	ATP6V1A
Main clinical features	generalized cutis laxa, with large skin folds, facial dysmorphology cutis laxa pattern characterized more by large skin folds and abnormal fat distribution hypotonia, cardiac abnormalities, seizures, MRI abnormalities risk of potentially life-threatening cardiopulmonary complications, such as pneumothorax, aortic root dilatation, cardiomyopathy, and congenital heart defects
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
	dermatology
	connective tissue
	neurology
Type	disease

Remark(s)