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References OMIM Gene GeneReviews HGMD HGNC
last update : 11-04-2018
Symbol NDUFB8D
Location 10q24.31
Name NDUFB8 deficiency
Corresponding gene NDUFB8
Main clinical features
  • clinical symptoms include fatal infantile lactic acidosis, cardiomyopathy, encephalopathy, myopathy, and hepatopathy
  • first symptoms were noted including failure to thrive, low consciousness, muscular hyoptonia, and seizures, lactate was elevated in plasma and cerebrospinal fluid
  • brain MRI showed abnormal signal intensities in the basal ganglia and brain stem as they are typically found in individuals with Leigh syndrome
  • Genetic determination not applicable
    Function/system disorder multisystem/generalized
    Type disease