Agent Commons Collaborative Research
Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
rareAny 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.
- Identifiers
- MONDO:0958231 OMIM:620719Orphanet:589515
- Causal genes
- PUM1
- Part of
- Mendelian neurodevelopmental disorderAutosomal dominant cerebellar ataxia type IMonogenic epilepsy
- Also known as
- PUM1-associated developmental disability-ataxia-seizure syndrome
Projects
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