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