Conditions / Genetic
nuclear type mitochondrial complex I deficiency 13
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3.
Signs and symptoms
- Bilateral tonic-clonic seizure
- Cardiac arrest
- Intellectual disability
- Acidosis
- Cerebral atrophy
- Vomiting
- Hypoplasia of the corpus callosum
- Developmental regression
- Bradycardia
- Global developmental delay
Also known as: MC1DN13