Conditions / Genetic
nuclear type mitochondrial complex I deficiency 16
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1.
Signs and symptoms
- Spastic tetraplegia
- Moderate intellectual disability
- Scoliosis
- Choreoathetosis
- Dystonia
- Caudate atrophy
- Agenesis of corpus callosum
- Global developmental delay
- Increased CSF lactate
- Decreased activity of mitochondrial complex I
Also known as: MC1DN16