Conditions / Genetic
combined oxidative phosphorylation deficiency 31
info · Genetic
A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12.
Signs and symptoms
- Global developmental delay
- Increased circulating lactate concentration
- Hypotonia
- Left ventricular noncompaction
- Failure to thrive
- Hypertrophic cardiomyopathy
- Increased intramyocellular lipid droplets
- Hyperalaninemia
- Lactic acidosis
- Seizure
Also known as: COXPD31; lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome