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GENATLAS PHENOTYPE

last update : 08-01-2010

Symbol	ARCL2B
Location	17q25.3
Name	cutis laxa, type 2 B
Corresponding gene	PYCR1
Main clinical features	cutis laxa with progeroid features, premature aging, wrinkled and lax skin, joint laxity, and a general developmental delay lax, wrinkled skin with reduced elasticity, lax joints, and mild craniofacial dysmorphic features
Genetic determination	autosomal recessive
Function/system disorder	connective tissue
Type	disease

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