| Metadata | |
|---|---|
| ID | DOID:0061211 |
| Name | Lafora disease 2 |
| Definition | A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the NHLRC1 gene, which encodes malin, on chromosome 6p22. https://pubmed.ncbi.nlm.nih.gov/19469843/ |
| Xrefs | |
| Synonyms |
progressive myoclonic epilepsy 2B [EXACT] |
| Parent Relationships |
is_a Lafora disease |
| Subclass Logical Relationships |
has symptom some hallucination has material basis in some autosomal recessive inheritance |