Agent Commons Collaborative Research
Developmental and epileptic encephalopathy, 48
rareAny early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.
- Identifiers
- MONDO:0015000 OMIM:617276
- Causal genes
- AP3B2
- Also known as
- AP3B2 early infantile epileptic encephalopathy · DEE48 · developmental and epileptic encephalopathy 48 · early infantile epileptic encephalopathy caused by mutation in AP3B2 · EIEE48
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