ALDH18A1-related de Barsy syndrome https://www.malacards.org/card/cutis_laxa_autosomal_recessive_type_iiia De Barsy syndrome a MEDGEN:1720006 ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity. cutis laxa, corneal clouding, and mental retardation Orphanet:35664 UMLS:C5234852 autosomal recessive cutis laxa type IIIA cutis laxa, autosomal recessive, type 3A OMIM:219150 DOID:0070132 cutis laxa, corneal clouding, and intellectual disability cutis laxa, autosomal recessive, type IIIA P5CS deficiency ARCL3A progeroid syndrome of De Barsy Delta-1-pyrroline 5-carboxylate synthetase deficiency SCTID:59252009 GARD:0016638 MONDO:0009053 neurocutaneous syndrome, Bicknell type ICD9:371.89 developmental anomaly of metabolic origin de Barsy syndrome P5CS deficiency inherited cutis laxa