Conditions / Genetic
nuclear type mitochondrial complex I deficiency 30
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3.
Signs and symptoms
- Redundant skin
- Congestive heart failure
- Decreased activity of mitochondrial complex I
- Intrauterine growth retardation
- Metabolic acidosis
- Premature birth
Also known as: MC1DN30