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Déficit combiné de la phosphorylation oxydative type 15
Déficit combiné de la phosphorylation oxydative type 7
Déficit combiné de la phosphorylation oxydative type 8

Translation of "Déficit combiné de la phosphorylation oxydative type 8 " (French → English) :

déficit combiné de la phosphorylation oxydative type 8
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A mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain. The disease has characteristics of severe hypertrophic cardi
SNOMEDCT-BE (disorder) / 733600007
SNOMEDCT-BE (disorder) / 733600007
https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]
https://browser.ihtsdotools.or (...) [HTML] [2018-01-01]
déficit combiné de la phosphorylation oxydative type 15
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A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordi
SNOMEDCT-BE (disorder) / 763203009
SNOMEDCT-BE (affecting mostly speech and coordi / 763203009
https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]
https://browser.ihtsdotools.or (...) [HTML] [2018-01-01]
déficit combiné de la phosphorylation oxydative type 7
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A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as
SNOMEDCT-BE (disorder) / 763204003
SNOMEDCT-BE (after initial normal development), as well as / 763204003
https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]
https://browser.ihtsdotools.or (...) [HTML] [2018-01-01]


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Déficit combiné de la phosphorylation oxydative type 8

Date index:2021-10-29 -

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