Features include always present findings: Delayed speech and language development and Global developmental delay; and common findings: Bilateral tonic-clonic seizure, Delayed ability to walk, Seizure, and Low muscle tone (hypotonia) and others. 19 total HPO annotations.

NBEA encodes neurobeachin (2,946 aa). Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins Highest expression in Brain Cerebellar Hemisphere (32.9 TPM) and Brain Cerebellum (27.4 TPM).

Neurodevelopmental disorder with or without early-onset generalized epilepsy is associated with mutations in the NBEA gene on chromosome 13.

The NBEA protein participates in NBEA translocates to the nucleus pathway.

NBEA is classified as a druggable target (Kinase category) with score 1.3.

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

Biomarker and diagnostic research for neurodevelopmental disorder with or without early-onset generalized epilepsy has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 6 common features.

No clinical trials have been registered for neurodevelopmental disorder with or without early-onset generalized epilepsy.

216 publications have been identified in PubMed for neurodevelopmental disorder with or without early-onset generalized epilepsy. Research spans Review / Meta-Analysis (26%), Basic Science / Preclinical (24%), and Case Report / Case Series (18%).