This website provides information on patients with mutations in the RXYLT1gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the RXYLT1gene is a multisystem disorder characterized by congenital muscular dystrophy, brain malformations (including cobblestone lissencephaly), developmental delay, intellectual disability, and eye abnormalities. Additional features may include hypotonia, seizures, and structural abnormalities of the central nervous system.
Recent studies have highlighted a broader clinical and radiological spectrum, including variability in brain imaging findings and disease severity, as well as emerging genotype–phenotype correlations.
Not all individuals with a mutation in the RXYLT1gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the RXYLT1gene.
Hiroshi Manya, PhD, Tokyo Metropolitan Institute for Geriatrics and Gerontology, Tokyo, Japan, manya@tmig.or.jp
RXYLT1