Conditions / Genetic
nuclear type mitochondrial complex I deficiency 28
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA13 gene on chromosome 19p13.11.
Signs and symptoms
- Hearing impairment
- Hyperalaninemia
- Axial hypotonia
- Global developmental delay
- Increased circulating lactate concentration
- Decreased activity of mitochondrial complex I
- Abnormal pyramidal sign
- Optic atrophy
- Optic disc pallor
- Poor head control
Also known as: MC1DN28