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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
    Remark(s)