Epilepsy, progressive myoclonic, 1B

Definition

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene.

Also known as epilepsy, progressive myoclonic 1B, epilepsy, progressive myoclonic, 1B, epilepsy, progressive myoclonic, type 1B, PRICKLE1 progressive myoclonic epilepsy, progressive myoclonic epilepsy caused by mutation in PRICKLE1 — per MONDO

Also identified as

• DOID 0111448 per MONDO
• ICD9 345.10 per MONDO
• MESH C580388 per MONDO
• OMIM 612437 per MONDO
• SCTID 702326000 per MONDO
• UMLS C2676254 per MONDO