Developmental and epileptic encephalopathy, 48
MONDO:0015000Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.
Also known as: AP3B2 early infantile epileptic encephalopathy, DEE48, EIEE48, developmental and epileptic encephalopathy 48, early infantile epileptic encephalopathy caused by mutation in AP3B2, epileptic encephalopathy, early infantile, 48, epileptic encephalopathy, early infantile, 48; EIEE48, epileptic encephalopathy, early infantile, type 48
17 clinical trials for this condition and its sub-types, 0 tagged with Developmental and epileptic encephalopathy, 48 itself.
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