Conditions / Genetic
nuclear type mitochondrial complex I deficiency 25
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1.
Signs and symptoms
- Encephalopathy
- Myopathy
- Feeding difficulties
- Hypotonia
- Global developmental delay
- Decreased activity of mitochondrial complex I
- Failure to thrive
- Intrauterine growth retardation
- Nemaline bodies
- Premature birth
Also known as: MC1DN25