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Developmental and Epileptic Encephalopathy 54
A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that is caused by heterozygous mutation in the HNRNPU gen
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Overview
A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that is caused by heterozygous mutation in the HNRNPU gen
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