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GTR Home > Conditions/Phenotypes > Spondylo-ocular syndrome

Spondylo-ocular syndrome

Synonyms
Spondyloocular syndrome, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Spondyloocular syndrome (SOS) is an autosomal recessive disorder characterized by platyspondyly, bone fragility, cataract, retinal detachment, hearing impairment, cardiac defects, and facial dysmorphism (Schmidt et al., 2001; Munns et al., 2015). [from OMIM]

Available tests

19 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: PXYLT2, SOS, XT-II, XT2, xylT-II, XYLT2
    Summary: xylosyltransferase 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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