Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism

MONDO:0958231

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.

Also known as: PUM1-associated developmental disability-ataxia-seizure syndrome

199 clinical trials for this condition and its sub-types.

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