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GENATLAS PHENOTYPE
last update : 22-08-2009
Symbol CMTND6
Location 3p21.31
Name mitochondrial complex 1 deficiency 6
Corresponding gene NDUFAF3
Main clinical features
  • lactic acidemia soon after birth and death before the age of six months
  • macrocephaly and severe muscle weakness and hypotonia
  • at the cerebral MRI, presence of striatal anomalies (PMID: 20972245))
  • Genetic determination
    Function/system disorder
    Type disease
    Remark(s)