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Combined Oxidative Phosphorylation Deficiency 24
A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that is caused by homozygous or compound heterozygous mutation i
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When to seek help
Seek medical help right away if you have severe, sudden, or worsening symptoms, trouble breathing, chest pain, or any symptom that feels life-threatening. This community is for peer support and education only and is not a substitute for professional medical advice.
If you are experiencing a medical emergency, contact your local emergency services immediately.
Overview
A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that is caused by homozygous or compound heterozygous mutation i
Resources
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.