Search Ontology:
Human Disease

spinal muscular atrophy with progressive myoclonic epilepsy

Term ID
DOID:0111527
Synonyms
  • hereditary myoclonus-progressive distal muscular atrophy syndrome
  • Jankovic-Rivera syndrome
  • SMA-PME
  • SMAPME
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)
References
Ontology
Human Disease   ( DOID:0111527 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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