combined oxidative phosphorylation deficiency 29

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3.

Signs and symptoms

Delayed CNS myelination
Dystonia
Cerebellar atrophy
Seizure
Global brain atrophy
Generalized hypotonia
Axonal degeneration
Subependymal cysts
Microcephaly
Decreased activity of mitochondrial complex III

Also known as: COXPD29