METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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4
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OrphanetNr:
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OMIM Id:
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614105
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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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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000252)
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Microcephaly |
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832 / 7739
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2
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(HPO:0001999)
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Abnormal facial shape |
variable [HPO:skoehler]
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169 / 7739
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3
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(HPO:0001263)
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Global developmental delay |
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853 / 7739
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4
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(HPO:0001942)
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Metabolic acidosis |
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81 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |