Combined oxidative phosphorylation defect type 13 (COXPD13) is a rare genetic disorder caused by mutations in the SURF1 gene. It is characterized by a deficiency in the production of energy in the cells of the body, leading to a wide range of symptoms including muscle weakness, seizures, and developmental delays. It is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for a person to be affected by the disorder.

The symptoms of Combined oxidative phosphorylation defect type 13 can vary depending on the severity of the condition, but may include:

- Muscle weakness
- Exercise intolerance
- Poor growth
- Developmental delay
- Seizures
- Cardiomyopathy
- Abnormal liver function
- Abnormal heart rhythm
- Abnormal breathing patterns
- Abnormal blood sugar levels
- Abnormal blood pressure
- Abnormal blood clotting
- Abnormal blood cell counts
- Abnormal kidney function
- Abnormal vision
- Abnormal hearing
- Abnormal skin pigmentation
- Abnormal bone growth
- Abnormal facial features
- Abnormal behavior

Combined oxidative phosphorylation defect type 13 is caused by mutations in the SURF1 gene. This gene provides instructions for making a protein that is involved in the production of energy in cells. Mutations in this gene disrupt the production of energy, leading to the signs and symptoms of this disorder.

The treatments for Combined oxidative phosphorylation defect type 13 depend on the severity of the condition and the specific symptoms present. Treatment may include dietary modifications, vitamin and mineral supplementation, medications to improve energy production, and physical and occupational therapy. In some cases, a liver or heart transplant may be necessary.

1. Mutations in the NDUFAF2 gene
2. Inheritance of a defective gene from a parent
3. Exposure to environmental toxins
4. Certain medical conditions, such as diabetes or obesity
5. Certain medications, such as anticonvulsants or antibiotics
6. Radiation exposure
7. Viral infections

At this time, there is no known cure or medications for Combined Oxidative Phosphorylation Defect Type 13. Treatment focuses on managing the symptoms and complications of the disorder. This may include physical therapy, occupational therapy, speech therapy, nutritional support, and medications to treat seizures or other symptoms.