Disease - Coenzyme Q10 deficiency, primary, 1
Definition
An autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form.
Acronym
COQ10D1
Synonyms
Coenzyme Q deficiency 1
CoQ deficiency 1
Primary CoQ10 deficiency 1
Ubiquinone deficiency 1
CoQ deficiency 1
Primary CoQ10 deficiency 1
Ubiquinone deficiency 1
Keywords
Disclaimer
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