OPTIC ATROPHY WITH DEMYELINATING DISEASE OF CNS
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 6 |
| OrphanetNr: | |
| OMIM Id: |
165200
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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 inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
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(HPO:0100653) | Optic neuritis | 3 / 7739 | ||||
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(HPO:0001269) | Hemiparesis | 51 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0011096) | Peripheral demyelination | 28 / 7739 | ||||
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(HPO:0001260) | Dysarthria | 329 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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