AP3B2 deficiency

Synonym(s)
- Early infantile epileptic encephalopathy type 48
Type

Disease
External link(s)
- IEMbase
Gene
- AP3B2 / adaptor related protein complex 3 subunit beta 2
  15q25.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Adaptor protein complex 3 subunit beta 2
Disease group(s)
- 19.6.3 Disorders of the adaptor protein complexes