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Joubert Syndrome 17
A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that is caused by compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13.
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 Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that is caused by compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13.
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.