X-linked non progressive cerebellar ataxia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SCAX5 |
| Number of Symptoms | 10 |
| OrphanetNr: | 314978 |
| OMIM Id: |
300703
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| ICD-10: |
G11.0 |
| 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: |
X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
X-linked cerebellar ataxia
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
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(HPO:0002345) | Action tremor | 11 / 7739 | ||||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0001270) | Motor delay | 322 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0001319) | Neonatal hypotonia | 101 / 7739 | ||||
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(HPO:0003680) | Nonprogressive disorder | 23 / 7739 | ||||
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(OMIM) | Normal intelligence | 81 / 7739 | ||||
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(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Zanni et al. (2008) reported a large American family of Norwegian descent in which 6 males spanning 3 generations had spinocerebellar ataxia inherited in an X-linked recessive pattern. All had a similar clinical phenotype with neonatal hypotonia, delayed ... |