SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS
General Information (adopted from Orphanet):
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Synonyms, Signs:
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SDSEM
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Number of Symptoms
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13
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OrphanetNr:
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OMIM Id:
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271322
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000514)
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Slow saccadic eye movements |
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21 / 7739
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2
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(HPO:0001288)
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Gait disturbance |
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318 / 7739
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3
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(HPO:0009830)
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Peripheral neuropathy |
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206 / 7739
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4
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(HPO:0100543)
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Cognitive impairment |
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230 / 7739
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5
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(HPO:0002071)
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Abnormality of extrapyramidal motor function |
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76 / 7739
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6
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(HPO:0001271)
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Polyneuropathy |
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56 / 7739
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7
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(HPO:0000924)
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Abnormality of the skeletal system |
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114 / 7739
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8
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(HPO:0001939)
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Abnormality of metabolism/homeostasis |
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328 / 7739
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9
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(HPO:0002503)
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Spinocerebellar tract degeneration |
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8 / 7739
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10
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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11
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(OMIM)
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Progressive intellectual impairment |
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1 / 7739
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12
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(OMIM)
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Nonspecific mitochondrial abnormalities on muscle biopsy |
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1 / 7739
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13
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(OMIM)
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Slow eye movements |
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3 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |