Conditions / Genetic
nuclear type mitochondrial complex I deficiency 15
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1.
Signs and symptoms
- Encephalopathy
- Dystonia
- Cerebellar atrophy
- Generalized hypotonia
- Nystagmus
- Reduced eye contact
- Metabolic acidosis
- CNS demyelination
- Increased circulating lactate concentration
- Decreased activity of mitochondrial complex I
Also known as: MC1DN15