Term Name: | progressive myoclonus epilepsy 1B |
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Synonyms: | EPM1B |
Definition: | An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in PRICKLE1 on chromosome 12q12. |
Ontology: | Human Disease [DOID:0111448] (DOID:0111448) |