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epilepsy, progressive myoclonic, 1B

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene.
Uniprot Description An autosomal recessive disorder characterized by myoclonus that progressed in severity over time, tonic-clonic seizures and ataxia.
Mondo Term and Equivalent IDs
MONDO:0012904:  epilepsy, progressive myoclonic, 1B
DOID:0111448: 
MESH:C580388: 
SCTID:702326000: 
UMLS:C2676254: