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spinal muscular atrophy with progressive myoclonic epilepsy
Summary
- Synonym
-
- Jankovic-Rivera syndrome
- SMA-PME
- SMAPME
- hereditary myoclonus-progressive distal muscular atrophy syndrome
- 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.
- Super Class
- autosomal recessive disease spinal muscular atrophy
External Links
- Disease Ontology
- DOID:0111527
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000708 | Atypical behavior |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001268 | Mental deterioration |
| HP:0001336 | Myoclonus |
| HP:0001337 | Tremor |
| HP:0001371 | Flexion contracture |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001609 | Hoarse voice |
