| Metadata | |
|---|---|
| ID | DOID:3534 |
| Name | Lafora disease |
| Definition | A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3. https://www.ncbi.nlm.nih.gov/pubmed/19469843, https://www.ncbi.nlm.nih.gov/pubmed/19267391 |
| Xrefs |
SNOMEDCT_US_2023_03_01:230425004 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
Lafora Progressive Myoclonic Epilepsy [EXACT] Lafora's disease [EXACT] MYOCLONIC EPILEPSY OF LAFORA [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some hallucination has material basis in some autosomal recessive inheritance |