Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism

Definition

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 — per MONDO

Also identified as

• OMIM 620719 per MONDO
• Orphanet 589515 per MONDO