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Results 1 - 4 of 4 for Combined oxidative phosphorylation deficiency 16
  1. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 
    ... not show signs and symptoms of the condition. Combined oxidative phosphorylation deficiency 12 COXPD12 LTBL Genetic Testing Registry: Leukoencephalopathy-thalamus ...
    https://medlineplus.gov/...nd-brainstem-involvement-and-high-lactate - Genetics
  2. Primary coenzyme Q10 deficiency 
    ... Central Quinzii CM, Hirano M. Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev. 2010;16(2):183-8. doi: 10.1002/ddrr.108. ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  3. ACAD9 deficiency 
    ... skeletal muscles). Severely affected individuals have brain dysfunction combined with myopathy (encephalomyopathy); these individuals usually also have ...
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics
  4. Spastic paraplegia type 7 
    ... adulthood. The prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in ... 10.1038/cr.2018.17. Epub 2018 Feb 16. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-7 - Genetics