Conditions / Genetic
nuclear type mitochondrial complex I deficiency 6
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23.
Signs and symptoms
- Lactic acidosis
- Decreased activity of mitochondrial complex I
- Failure to thrive
- Motor delay
- Brain atrophy
- Nystagmus
- Vomiting
- Increased circulating lactate concentration
- Respiratory insufficiency
- Generalized hypotonia
Also known as: MC1DN6