Conditions / Genetic
nuclear type mitochondrial complex I deficiency 11
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF1 gene on chromosome 15q15.1.
Signs and symptoms
- Moderate intellectual disability
- Global developmental delay
- Hypotonia
- Pigmentary retinopathy
- Decreased activity of mitochondrial complex I
- Failure to thrive
- Hypertrophic cardiomyopathy
- Cerebral visual impairment
- Wolff-Parkinson-White syndrome
- Congestive heart failure
Also known as: MC1DN11