Features include always present findings: Delayed speech and language development and Intellectual disability; and very common findings: Seizure and Autistic behavior. 18 total HPO annotations.

CELF2 encodes CUGBP Elav-like family member 2 (508 aa). RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Highest expression in Nerve Tibial (52.5 TPM) and Cells EBV-transformed lymphocytes (48.7 TPM).

Developmental and epileptic encephalopathy 97 is associated with mutations in the CELF2 gene on chromosome 10.

CELF2 is classified as a druggable target with score 0.0.

Genetic testing for CELF2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy 97 has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 2 very common features, 9 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy 97.

27 publications have been identified in PubMed for developmental and epileptic encephalopathy 97. Research spans Epidemiology / Natural History (42%), Review / Meta-Analysis (19%), and Diagnostic / Biomarker (15%).