has material basis in germline mutation in PYCR1 autosomal recessive cutis laxa type 2B https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/1641/cutis-laxa-autosomal-recessive-type-2b https://www.malacards.org/card/cutis_laxa_autosomal_recessive_type_iib Orphanet:357064 autosomal recessive cutis laxa type 2 caused by mutation in PYCR1 MONDO:0013051 ARCL2B ARCL2, progeroid type OMIM:612940 cutis laxa, autosomal recessive type 2B UMLS:C2751987 Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. DOID:0070137 MESH:C567855 GARD:0001641 cutis laxa, autosomal recessive, type IIB PYCR1 autosomal recessive cutis laxa type 2 autosomal recessive cutis laxa type 2, progeroid type autosomal recessive cutis laxa type 2B MEDGEN:414526 autosomal recessive cutis laxa type 2 osteogenesis imperfecta and a reduction of bone mineral density.