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Summary Literature (0)
MIM:159950 - SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY; SMAPME

Xenbase Genes: asah1

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008045 - spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Disease Ontology (DO):
DOID:0111527 - spinal muscular atrophy with progressive myoclonic epilepsy