Primary Coenzyme Q10 Deficiency 7 (COQ4)
Primary Coenzyme Q10 deficiency is an autosomal recessive disorder caused by pathogenic variants in several genes, including COQ4. Symptoms of this condition typically present shortly after birth. Most individuals have severe cardiac symptoms, such as hypertrophic cardiomyopathy, as well as neurological symptoms, such as seizures, severe hypotonia (low muscle tone), respiratory insufficiency, cerebellar hypoplasia, and slowly progressive neurologic deterioration. This disorder is typically fatal within the first few days of life. Rarely, hypertrophic cardiomyopathy can be observed on ultrasound in utero prior to birth. No clear genotype-phenotype correlation has been established.
For information about carrier frequency and residual risk, please see the residual risk table.