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GENATLAS PHENOTYPE
last update : 06-10-2014
Symbol APOPT1D
Location 14q32.32
Name APOPT1deficiency
Corresponding gene APOPT1
Main clinical features
  • infantile or childhood-onset mitochondrial disease
  • characterized by marked COX deficiency and a well-characterized form of cavitating leukodystrophy
  • MRI hallmarks in the acute stage are white matter abnormalities containing numerous small, well-delineated cysts, predominantly in the posterior areas of the cerebral hemispheres, also involving the connecting corpus callosum
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    mental retardation
    Type disease
    Remark(s)