Disease association ontology term - MONDO:0958231 - neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
Term summary
- ID
- MONDO:0958231
- Name
- neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
- Ontology or CV name
- Disease association
- 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.
