neurodevelopmental disorder with parkinsonism or other movement abnormalities

Term ID

DOID:0051076

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. (2)

References

• MIM:621506

Ontology

Human Disease   ( DOID:0051076 )