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autosomal recessive cutis laxa type 2

Disease Summary
Associated Targets (4)
Tbio

4


Explore Associated Targets
Mondo Description Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, DebrC) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).
Mondo Term and Equivalent IDs
MONDO:0019573:  autosomal recessive cutis laxa type 2
Orphanet:90350: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found