Conditions / Genetic
nuclear type mitochondrial complex I deficiency 14
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA11 gene on chromosome 19p13.3.
Signs and symptoms
- Biventricular hypertrophy
- Increased circulating lactate concentration
- Global developmental delay
- Decreased activity of mitochondrial complex I
- Brain atrophy
- Hypertrophic cardiomyopathy
- Lactic acidosis
- Secondary microcephaly
- Encephalopathy
- Myopathy
Also known as: MC1DN14