OBO ID: DOID:0111527
Term Name: spinal muscular atrophy with progressive myoclonic epilepsy Search Ontology:
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 ASAH1 on chromosome 8p22. (2)
References:
Ontology: Human Disease   (DOID:0111527)
OTHER spinal muscular atrophy with progressive myoclonic epilepsy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ASAH1 Spinal muscular atrophy with progressive myoclonic epilepsy 159950
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None