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Summary Literature (0)
MIM:616539 - PERIPHERAL NEUROPATHY WITH VARIABLE SPASTICITY, EXERCISE INTOLERANCE, AND DEVELOPMENTAL DELAY; PNSED

Xenbase Genes: trmt5

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014684 - combined oxidative phosphorylation defect type 26

Disease Ontology (DO):
DOID:0111490 - combined oxidative phosphorylation deficiency 26