Conditions / Genetic
primary coenzyme Q10 deficiency 5
info · Genetic
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21.
Signs and symptoms
- Encephalopathy
- Hypertonia
- Cerebral atrophy
- Hypothermia
- Dystonia
- Cerebellar atrophy
- Feeding difficulties
- Seizure
- Global developmental delay
- Decreased level of coenzyme Q10 in skeletal muscle
Also known as: COQ10D5; coenzyme Q10 deficiency, primary, 5; encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome