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GENATLAS PHENOTYPE

last update : 22-03-2011

Symbol	MEIO2
Location	14q12
Name	mitochondrial encephalopathy, infantile-onset.2
Corresponding gene	NUBPL
Main clinical features	complex I deficiency with infantile-onset encephalomyopathy developmental delay, leukodystrophy and elevated CSF lactate MRI pattern showing predominant abnormalities of the cerebellar cortex, deep cerebral white matter, and corpus callosum
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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