EPILEPSY, PROGRESSIVE MYOCLONIC 7
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 6 |
| OrphanetNr: | |
| OMIM Id: |
616187
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
|
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
|
(HPO:0001268) | Mental deterioration | rare [HPO:skoehler] | 88 / 7739 | |||
|
|
(HPO:0001337) | Tremor | 200 / 7739 | ||||
|
|
(HPO:0001251) | Ataxia | rare [HPO:skoehler] | 413 / 7739 | |||
|
|
(HPO:0001336) | Myoclonus | 115 / 7739 | ||||
|
|
(HPO:0001250) | Seizures | 1245 / 7739 | ||||
|
|
(HPO:0001272) | Cerebellar atrophy | rare [HPO:skoehler] | 197 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|