Conditions / Genetic
nuclear type mitochondrial complex I deficiency 27
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31.
Signs and symptoms
- Global developmental delay
- Decreased activity of mitochondrial complex I
- Neurogenic bladder
- Spastic tetraplegia
- Hypotonia
- Ataxia
- Optic atrophy
- Intellectual disability
- Vertical supranuclear gaze palsy
Also known as: MC1DN27