| Term Name: | neurodevelopmental disorder with parkinsonism or other movement abnormalities |
|---|---|
| Synonyms: | NEDPAM |
| Definition: | An autosomal recessive intellectual developmental disorder that is characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combination of these and that has_material_basis_in homozygous or compound heterozygous mutation in the EPG5 gene on chromosome 18q12-q21. |
| Ontology: | Human Disease [DOID:0051076] ( DOID:0051076 ) |