Peripheral Neuropathy with Variable Spasticity, Exercise Intolerance, and Developmental Delay (PNSED)

Peripheral Neuropathy with Variable Spasticity, Exercise Intolerance, and Developmental Delay, also known as combined oxidative phosphorylation defect type 26, is related to combined oxidative phosphorylation deficiency and spastic diplegia. An important gene associated with Peripheral Neuropathy with Variable Spasticity, Exercise Intolerance, and Developmental Delay is TRMT5 (TRNA Methyltransferase 5), and among its related pathways/superpathways is Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Affiliated tissues include pancreas and kidney, and related phenotypes are spasticity and muscle weakness