Mild Canavan disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Juvenile Canavan disease |
| Number of Symptoms | 5 |
| OrphanetNr: | 314918 |
| OMIM Id: |
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| ICD-10: |
E75.2 |
| 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 recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Canavan disease
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
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(HPO:0000510) | Rod-cone dystrophy | Occasional [Orphanet] | 266 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0002360) | Sleep disturbance | Very frequent [Orphanet] | 113 / 7739 | |||
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(HPO:0011442) | Abnormality of central motor function | Very frequent [Orphanet] | 76 / 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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