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Combined Oxidative Phosphorylation Defect Type 37

Presentation

GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. Optic atrophy MedGen UID: 18180 •Concept ID: C0029124 • Disease or Syndrome Atrophy of the optic nerve. [ncbi.nlm.nih.gov]

Prognosis

PMID: 18206410Free PMC Article Prognosis Koller A, Fazzini F, Lamina C, Rantner B, Kollerits B, Stadler M, Klein-Weigel P, Fraedrich G, Kronenberg F J Intern Med 2020 May;287(5):569-579. Epub 2020 Feb 9 doi: 10.1111/joim.13027. [ncbi.nlm.nih.gov]

Etiology

Persistent head lag Poor eye contact Progressive neurologic deterioration Spasticity Abnormality of the respiratory system Respiratory failure Respiratory insufficiency Ear malformation Sensorineural hearing loss disorder Growth abnormality Failure to thrive Etiology [ncbi.nlm.nih.gov]

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