Features include always present findings: Brain shrinkage (cerebral atrophy), Hypsarrhythmia, Delayed ability to walk, and Global developmental delay and others; and common findings: Axial hypotonia, Hyperkinetic movements, Astigmatism, and Difficulty swallowing (dysphagia) and others. 18 total HPO annotations.

NEUROD2 encodes neuronal differentiation 2 (382 aa). Transcriptional regulator implicated in neuronal determination. Mediates calcium-dependent transcription activation by binding to E box-containing promoter. Highest expression in Brain Cerebellar Hemisphere (192.0 TPM) and Brain Cerebellum (174.5 TPM).

Developmental and epileptic encephalopathy, 72 is associated with mutations in the NEUROD2 gene on chromosome 17.

NEUROD2 is classified as a druggable target with score 0.0.

Genetic testing for NEUROD2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 72 has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 11 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 72.

60 publications have been identified in PubMed for developmental and epileptic encephalopathy, 72. Research spans Epidemiology / Natural History (45%), Review / Meta-Analysis (17%), and Diagnostic / Biomarker (13%).