Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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0
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OrphanetNr:
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OMIM Id:
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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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Age of onset:
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Neonatal
Infancy
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT
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Comment:
| This disease is annotated under Multiple acyl-CoA dehydrogenase deficiency (ORPHA26791, Phenodis:3416). |
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |