combined oxidative phosphorylation deficiency 35

A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromo

A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2.

Signs and symptoms

• Microcephaly
• EEG abnormality
• Delayed speech and language development
• Generalized myoclonic seizure
• Delayed ability to walk
• Febrile seizure (within the age range of 3 months to 6 years)
• Global developmental delay
• Decreased activity of mitochondrial complex I
• Epileptic encephalopathy
• Decreased activity of mitochondrial complex IV

Also known as: COXPD35