Metadata | |
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ID | DOID:0111448 |
Name | progressive myoclonus epilepsy 1B |
Definition | An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12. https://www.ncbi.nlm.nih.gov/pubmed/18976727 |
Xrefs | |
Synonyms |
EPM1B [EXACT] |
Parent Relationships |