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References OMIM Gene GeneReviews HGMD HGNC
last update : 20/06/2006
Symbol COX15D
Location 10q24
Name COX15 deficiency
Corresponding gene COX15
Main clinical features
  • with hypotonia, motor regression, microcephaly and retinopathy, spasticity of the lower limbs, lactic acidosis, and at the IRM, bilateral lesions in the basal ganglia
  • including cases with Leigh syndrome and fatal hypertrophic cardiomyopathy
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    mental retardation
    Type disease
    Gene product
    Name COX15 homolog, cytochrome c oxidase assembly protein (yeast)
    Remark(s) mitochondrial complex IV deficiency