Disease-gene associations mined from literature

Human genes for Lafora disease

Lafora disease [DOID:3534]

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.

Synonyms:  Lafora disease,  DOID:3534,  Lafora disorder,  Lafora syndrome,  Lafora diseases ...

Linkouts:  OMIM