Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Spondyloocular Syndrome, Autosomal Recessive
0.300 GermlineCausalMutation disease ORPHANET Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. 26027496 2015