Variant: rs797044806 

    present in Gene: XYLT2
    present in Chromosome: 17
    Position on Chromosome: 50354465
    Alleles of this Variant: -/C

rs797044806 in XYLT2 gene and Dysmorphic features PMID 26027496 2015 Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.

PMID 28884924 2017 Two novel mutations in XYLT2 cause spondyloocular syndrome.

PMID 26987875 2016 Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

PMID 29136277 2018 Homozygous XYLT2 variants as a cause of spondyloocular syndrome.

rs797044806 in XYLT2 gene and Multiple congenital anomalies PMID 29136277 2018 Homozygous XYLT2 variants as a cause of spondyloocular syndrome.

PMID 26987875 2016 Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

PMID 26027496 2015 Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.

PMID 28884924 2017 Two novel mutations in XYLT2 cause spondyloocular syndrome.