Conditions / Genetic
nuclear type mitochondrial complex I deficiency 12
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24.
Signs and symptoms
- Ataxia
- Global developmental delay
- Decreased activity of mitochondrial complex I
- Dementia
- Generalized myoclonic seizure
- Generalized hypotonia
- Nystagmus
- Axial hypotonia
- Hyporeflexia
- Delayed speech and language development
Also known as: MC1DN12