Spastic paraplegia - epilepsy - intellectual deficit
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SPERM SPEMR |
| Number of Symptoms | 6 |
| OrphanetNr: | 2816 |
| OMIM Id: |
182610
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant complex spastic paraplegia
-Rare genetic disease -Rare neurologic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0002313) | Spastic paraparesis | 33 / 7739 | ||||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001258) | Spastic paraplegia | 97 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0007340) | Lower limb muscle weakness | 61 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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