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Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation
A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that is caused by homozygous mutation in the EMC1 gene on chromosome 1p36.
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 that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that is caused by homozygous mutation in the EMC1 gene on chromosome 1p36.
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.