Spastic paraplegia - glaucoma - intellectual deficit
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 6 |
| OrphanetNr: | 2818 |
| OMIM Id: |
270850
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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: | 2 families [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive 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:0000501) | Glaucoma | Very frequent [Orphanet] | 180 / 7739 | |||
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(HPO:0001258) | Spastic paraplegia | 97 / 7739 | ||||
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(HPO:0004374) | Hemiplegia/hemiparesis | Very frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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