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GENATLAS PHENOTYPE
last update : 14-11-2012
Symbol COXPD11
Location 6q25.1
Name combined oxidative phosphorylation deficiency 11
Corresponding gene RMND1
Main clinical features
  • severe neonatal encephaloneuromyopathy and lactic acidosis
  • severe multisystemic disorder characterized by neonatal hypotonia and lactic acidosis
  • affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy.
  • Genetic determination autosomal recessive
    Function/system disorder multisystem/generalized
    Type disease
    Remark(s)