COENZYME Q10 DEFICIENCY, PRIMARY, 7
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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12
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OrphanetNr:
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OMIM Id:
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616276
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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:0200134)
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Epileptic encephalopathy |
rare [HPO:skoehler]
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42 / 7739
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2
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(HPO:0002015)
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Dysphagia |
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301 / 7739
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3
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(HPO:0001250)
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Seizures |
rare [HPO:skoehler]
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1245 / 7739
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4
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(HPO:0002650)
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Scoliosis |
rare [HPO:skoehler]
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705 / 7739
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5
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(HPO:0001511)
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Intrauterine growth retardation |
rare [HPO:skoehler]
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358 / 7739
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6
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(HPO:0001639)
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Hypertrophic cardiomyopathy |
rare [HPO:skoehler]
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137 / 7739
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7
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(HPO:0001643)
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Patent ductus arteriosus |
rare [HPO:skoehler]
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228 / 7739
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8
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(HPO:0001662)
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Bradycardia |
rare [HPO:skoehler]
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41 / 7739
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9
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(HPO:0002151)
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Increased serum lactate |
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92 / 7739
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10
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(HPO:0002093)
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Respiratory insufficiency |
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410 / 7739
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11
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(HPO:0001252)
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Muscular hypotonia |
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990 / 7739
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12
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(HPO:0001321)
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Cerebellar hypoplasia |
rare [HPO:skoehler]
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114 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |