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PUM1-associated developmental disability-ataxia-seizure syndrome

MedGen UID:
1052640
•Concept ID:
CN376901
•
Disease or Syndrome
Synonym: neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
 
Monarch Initiative: MONDO:0958231

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. [from MONDO]

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