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Up to: Mendelian neurodevelopmental disorder · Autosomal dominant cerebellar ataxia type I · Monogenic epilepsy

Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism

Any neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, poor overall growth, severely impaired motor development, and dysmorphic facial features due to a variation in the PUM1 gene.

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