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Ichthyosis Follicularis-Alopecia-Photophobia Syndrome 1
A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that is caused by hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12.
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 syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that is caused by hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12.
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.