Alpha-mannosidosis, infantile form
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Lysosomal alpha-D-mannosidase deficiency, infantile form |
| Number of Symptoms | 0 |
| OrphanetNr: | 309282 |
| OMIM Id: |
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| ICD-10: |
E77.1 |
| 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: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Alpha-mannosidosis
-Rare bone disease -Rare cardiac disease -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease -Rare neurologic disease |
Comment:
| Alpha-mannosidosis, infantile form is a sub-type of alpha-mannosidosis [Phenodis:5942]. For symptom annotation please refer to alpha-mannosidosis [Phenodis:5942]. |
Symptom Information:
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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