Features include always present findings: Seizure, Reduced eye contact, Delayed ability to sit, and Axial hypotonia and others; and common findings: Generalized hypotonia, Hyporeflexia, Microcephaly, and Absent speech and others. 24 total HPO annotations.

AP3B2 encodes adaptor related protein complex 3 subunit beta 2 (1,082 aa). Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. Highest expression in Brain Cerebellum (82.9 TPM) and Brain Cerebellar Hemisphere (74.9 TPM).

Developmental and epileptic encephalopathy, 48 is associated with mutations in the AP3B2 gene on chromosome 15.

AP3B2 is classified as a druggable target (Kinase category) with score 0.0.

Genetic testing for AP3B2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 48 has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 8 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 48.

82 publications have been identified in PubMed for developmental and epileptic encephalopathy, 48. Research spans Epidemiology / Natural History (32%), Basic Science / Preclinical (17%), and Case Report / Case Series (13%).