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GENATLAS PHENOTYPE
last update : 27-11-2010
Symbol CMTND4
Location 20p12.1
Name mitochondrial complex 1 deficiency 4
Corresponding gene C20orf7
Main clinical features
  • lethal neonatal mitochondrial disease, intrauterine growth retardation, minor facial dysmorphism, and other minor dysmorphic features with unusual hair patterning, abnormal toes, and a small sacral pit
  • cerebral ultrasound showed agenesis of the corpus callosum and ventricular septation
  • marked complex I deficiency in skeletal muscle, liver, and skin fibroblasts of the proband, with essentially normal activity of other complexes
  • at the cerebral MRI, presence of striatal anomalies (PMID: 20972245))
  • also cases of typical Leigh syndrome (PMID: 19542079))
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)