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GENATLAS PHENOTYPE
last update : 08-11-2016
Symbol SDHBD
Location 1p36.13
Name succinate dehydrogenase subunit B defieciency
Corresponding gene SDHB
Main clinical features
  • neurologic impairment, leukoencephalopathy, and biochemical evidence of mitochondrial complex II deficiency
  • hypotonia and leukodystrophy with elevated brain succinate demonstrated by MR spectroscopy
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)