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Disease Ontology Browser
neurodevelopmental disorder with parkinsonism or other movement abnormalities (DOID:0051076)
Alliance: disease page
Synonyms: NEDPAM
Alt IDs: OMIM:621506
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
03/31/2026
MGI 6.24 		The Jackson Laboratory