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GENATLAS PHENOTYPE
last update : 16-05-2018
Symbol MMDS2
Location 2p13.1
Name multiple mitochondrial dysfunctions syndrome 2
Corresponding gene BOLA3
Main clinical features
  • developmental delay and subsequently dilated cardiomyopathy and epileptic encephalopathy
  • feeding difficulties, weakness, lethargy and decreasing responsiveness within a few days after both associated to lactid acidosis, hyperglycinemia defect of multiple mitochondrial functions and a fetal outcome before one month of age
  • Genetic determination
    Function/system disorder
    Type disease
    Remark(s)