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Spondyloocular Syndrome, Autosomal Recessive

MedGen UID:: 343011
•Concept ID:: C1853925
•: Disease or Syndrome

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

Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME
Am J Hum Genet 2015 Jun 4;96(6):971-8. Epub 2015 May 28 doi: 10.1016/j.ajhg.2015.04.017. PMID: 26027496 Free PMC Article

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Spondyloocular Syndrome, Autosomal Recessive
Spondyloocular Syndrome, Autosomal Recessive

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C1853925[conceptid] (1)
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