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GENATLAS PHENOTYPE

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

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