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progressive myoclonic epilepsy type 8

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.
Uniprot Description A severe form of progressive myoclonic epilepsy characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment.
Mondo Term and Equivalent IDs
MONDO:0014545:  progressive myoclonic epilepsy type 8
DOID:0111451: 
Orphanet:424027: 
UMLS:C4015619: