autosomal recessive disease developmental anomaly of metabolic origin inborn disorder of proline metabolism skeletal dysplasia autosomal recessive cutis laxa type 2 https://www.malacards.org/card/cutis_laxa_autosomal_recessive_type_iie ARCL2 cutis laxa with joint laxity and developmental delay 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, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS). UMLS:C0432337 MEDGEN:609467 GARD:0019134 MONDO:0019573 Orphanet:90350 inherited cutis laxa obsolete_autosomal recessive cutis laxa type 2