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Developmental and Epileptic Encephalopathy 122
A developmental and epileptic encephalopathy that is characterized by infantile hypotonia, severe neurodevelopmental delay, intractable seizures, and distinct dysmorphic features and that is caused by homozygous mutation
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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 developmental and epileptic encephalopathy that is characterized by infantile hypotonia, severe neurodevelopmental delay, intractable seizures, and distinct dysmorphic features and that is caused by homozygous mutation
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