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

26 clinical trials for this condition and its sub-types, 0 tagged with Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism itself.

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↑ Mendelian neurodevelopmental disorder (208) ↑ Autosomal dominant cerebellar ataxia type I (16) ↑ Monogenic epilepsy (12)

Including sub-types (26) Tagged with Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism (0)

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