Understanding De Santo Shinawi syndrome with WAC gene changes
Part of Genetic & congenital clinical trials.
This study collects medical information from people who have a change in the WAC gene, which causes a rare condition called De Santo-Shinawi syndrome. It aims to better describe the symptoms and help doctors recognize it.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You must have a confirmed change (pathogenic or likely pathogenic) in the WAC gene.
- You can be any age, from child to adult.
- You cannot have a different genetic diagnosis for a neurodevelopmental disorder.
- You cannot have already been in a published study on De Santo Shinawi syndrome.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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