Conditions / Genetic
mitochondrial complex IV deficiency nuclear type 13
info · Genetic
A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42.
Signs and symptoms
- Hypothermia
- Short chin
- Hypotonia
- Left ventricular noncompaction
- Reduced left ventricular ejection fraction
- Tricuspid regurgitation
- Hypertrophic cardiomyopathy
- Decreased activity of mitochondrial complex IV
- Neonatal hypotonia
- Aortic regurgitation
Also known as: MC4DN13; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4