Metadata | |
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ID | DOID:0111452 |
Name | progressive myoclonus epilepsy 1A |
Definition | An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3. https://www.ncbi.nlm.nih.gov/pubmed/8596935 |
Xrefs | |
Synonyms |
EPM1A [EXACT] |
Parent Relationships |