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 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder