Conditions / Genetic
nuclear type mitochondrial complex I deficiency 18
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31.
Signs and symptoms
- Increased CSF lactate
- Decreased activity of mitochondrial complex I
- Optic disc pallor
- Lactic acidosis
- Hypertonia
- Feeding difficulties
- Global developmental delay
- Respiratory failure
- Wide anterior fontanel
- Hydroureter
Also known as: MC1DN18