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Déficit combiné de la phosphorylation oxydative type 15
Déficit combiné de la phosphorylation oxydative type 2
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

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


déficit combiné de la phosphorylation oxydative type 15

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


déficit combiné de la phosphorylation oxydative type 7

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


déficit combiné de la phosphorylation oxydative type 2

A rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterised by severe intrauterine growth retardation, neonatal limb oedema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agen
SNOMEDCT-BE (disorder) / 764943000
SNOMEDCT-BE (hydrops), developmental brain defects (corpus callosum agen / 764943000


hépatoencéphalopathie par déficit combiné de la phosphorylation oxydative de type 1

A rare inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis. The disease has characteristics of intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encep
SNOMEDCT-BE (disorder) / 764962002
SNOMEDCT-BE (disorder) / 764962002




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Déficit combiné de la phosphorylation oxydative type 8

Date index:2023-09-30 -

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