Spinal Muscular Atrophy-progressive Myoclonic Epilepsy Syndrome
| Disease Aliases (12) | Hereditary myoclonus and progressive distal muscular atrophy Hereditary myoclonus with progressive distal muscular atrophy Hereditary myoclonus-progressive distal muscular atrophy syndrome Jankovic rivera syndrome Jankovic-rivera syndrome Myoclonus, hereditary, with progressive distal muscular atrophy Myoclonus hereditary progressive distal muscular atrophy Sma-pme Smapme Spinal muscular atrophy with progressive myoclonic epilepsy Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Spinal muscular atrophy with progressive myoclonic epilepsy; smapme |
Associated Genes (1) NCBI-RefSeq: ASAH1 (N-acylsphingosine amidohydrolase 1) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |