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DOID DOID:0080448
Name early infantile epileptic encephalopathy 48
Definition An early infantile epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25.
https://www.ncbi.nlm.nih.gov/pubmed/27889060
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OMIM:617276

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is_a early infantile epileptic encephalopathy

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