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Blepharophimosis-Impaired Intellectual Development Syndrome
A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that is caused by heterozygous mutation in the SMARCA2 gene on chromosome 9p24.
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
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Overview
A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that is caused by heterozygous mutation in the SMARCA2 gene on chromosome 9p24.
Resources
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.