Conditions / Genetic
mitochondrial complex IV deficiency nuclear type 6
info · Genetic
A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24.
Signs and symptoms
- Feeding difficulties
- Hypotonia
- Lower limb spasticity
- Midface retrusion
- Bloody diarrhea
- Motor regression
- Hypertrophic cardiomyopathy
- Bilateral basal ganglia lesions
- Retinopathy
- Horizontal nystagmus
Also known as: MC4DN6; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2