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Pontocerebellar Hypoplasia Type 2F
A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that is caused by homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q2
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.
If you are experiencing a medical emergency, contact your local emergency services immediately.
Overview
A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that is caused by homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q2
Resources
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.