has material basis in germline mutation in XYLT2 spondylo-ocular syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/spondyloocular_syndrome MONDO:0011604 spondyloocular syndrome Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows. GARD:0016740 OMIM:605822 Orphanet:85194 SCTID:715653007 MEDGEN:900371 icd11.foundation:1611450426 UMLS:C4225412 SOS obsolete primary bone dysplasia with decreased bone density congenital vitreoretinal dysplasia osteogenesis imperfecta and a reduction of bone mineral density. linkeropathy