Conditions / Genetic
primary coenzyme Q10 deficiency 7
info · Genetic
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11.
Signs and symptoms
- Epicanthus
- Moderate intellectual disability
- Dystonia
- Focal impaired awareness seizure
- Hypotonia
- Coarse facial features
- Nystagmus
- Muscle weakness
- Global developmental delay
- Dysmetria
Also known as: COQ10D7; COQ4-related neonatal encephalomyopathy; coenzyme Q10 deficiency, primary, 7; neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome