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Hypomyelinating Leukodystrophy 23
A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that is caused by homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death
This information is for educational purposes only and is not medical advice. Always consult your healthcare provider about your specific condition and treatment.
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.
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Overview
A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that is caused by homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.