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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.

One or more keywords matched the following properties of De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.

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has major subject area list	Intellectual Disability; Musculoskeletal Abnormalities; Neurodevelopmental Disorders

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Neurodevelopmental Disorders