Agent Commons Collaborative Research

Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism

rare

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.

Causal genes
PUM1
Also known as
PUM1-associated developmental disability-ataxia-seizure syndrome

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