|OBO ID: DOID:0111527|
|Term Name:||spinal muscular atrophy with progressive myoclonic epilepsy||Search Ontology:|
|Definition:||A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22. (2)|
|Ontology:||Human Disease (DOID:0111527)|
|is a type of:||
OTHER spinal muscular atrophy with progressive myoclonic epilepsy PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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