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Neurodevelopmental disorder with "seizures," "hypotonia," brain imaging abnormalities
- ... I, Tabata H, Nagata KI. MUNC18-1 gene abnormalities are involved in neurodevelopmental disorders through defective cortical architecture during brain development. Acta ...
- ... or a thin upper lip. Other, less-common abnormalities involving the bones and skin include premature fusion of certain skull bones (craniosynostosis), unusually loose (lax) joints, and loose skin.Neurodevelopmental disorders can also occur in Xia-Gibbs syndrome. Some ...