has material basis in germline mutation in PYCR1 PYCR1-related de Barsy syndrome https://www.malacards.org/card/cutis_laxa_autosomal_recessive_type_iiib GARD:0017340 ARCL3B de Barsy syndrome caused by mutation in PYCR1 MEDGEN:482429 pyrroline-5-carboxylate reductase 1 deficiency PYCR1 de Barsy syndrome Orphanet:293633 DOID:0070138 cutis laxa, autosomal recessive, type IIIB UMLS:C3280799 Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene. autosomal recessive cutis laxa type IIIB MONDO:0013755 cutis laxa, autosomal recessive, type 3B PYCR1 deficiency OMIM:614438 de Barsy syndrome inherited cutis laxa