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References OMIM Gene GeneReviews HGMD HGNC
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