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GENATLAS PHENOTYPE
last update : 27-06-2023
Symbol CIA30D
Location 15q15.1
Name CIA30 deficiency
Corresponding gene NDUFAF1
Main clinical features
  • cardioencephalomyopathy, myopathy, visual impairment, kyphoscoliosis and mild intellectual handicap , with reduction in complex I activity in lymphoblasts and fibroblasts
  • also fatal infantile hypertrophic cardiomyopathy, with complex I misassembly
  • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    neuromuscular
    mental retardation
    Type disease
    Remark(s)