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GENATLAS PHENOTYPE
last update : 22-05-2018
Symbol COXPD36
Location 9q34.3
Name combined oxidative phosphorylation deficiency 36
Corresponding gene MRPS2
Main clinical features
  • delayed psychomotor development and hypotonia, followed by speech delay associated with sensorineural hearing loss and episodic hypoglycemia
  • moderate intellectual disability, frequent headaches, weakness of the lower limbs, and exercise intolerance, frequent redundant skin of the neck; normal brain MRI
  • laboratory studies in both patients showed increased lactate, increased urinary Krebs cycle intermediates, such as 2-oxoglutaric aciduria
  • Genetic determination autosomal recessive
    Function/system disorder multisystem/generalized
    Type disease
    Remark(s)