Conditions / Genetic
primary coenzyme Q10 deficiency 8
info · Genetic
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3.
Signs and symptoms
- Hearing impairment
- Pulmonary hypoplasia
- Flexion contracture
- Polyneuropathy
- Hypotonia
- Generalized hypotonia
- Motor delay
- Pain
- Postnatal growth retardation
- Muscle weakness
Also known as: COQ10D8; coenzyme Q10 deficiency, primary, 8