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- B078f162e16e98eae5a133aa9563e42d8 hasDbXref "Orphanet:2590" @default.
- B078f162e16e98eae5a133aa9563e42d8 type Axiom @default.
- B078f162e16e98eae5a133aa9563e42d8 annotatedProperty IAO_0000115 @default.
- B078f162e16e98eae5a133aa9563e42d8 annotatedSource MONDO_0008045 @default.
- B078f162e16e98eae5a133aa9563e42d8 annotatedTarget "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus." @default.