Features include always present findings: Absent speech and Seizure; and common findings: Highly arched eyebrow, Hypsarrhythmia, Microcephaly, and Generalized hypotonia and others. 15 total HPO annotations.

CYFIP2 encodes cytoplasmic FMR1 interacting protein 2 (1,278 aa). Involved in T-cell adhesion and p53/TP53-dependent induction of apoptosis. Does not bind RNA. Highest expression in Brain Cerebellar Hemisphere (140.8 TPM) and Brain Cerebellum (122.9 TPM).

Developmental and epileptic encephalopathy, 65 is associated with mutations in the CYFIP2 gene on chromosome 5.

The CYFIP2 protein participates in RHO GTPases Activate WASPs and WAVEs pathway.

CYFIP2 is classified as a druggable target with score 0.0.

Genetic testing for CYFIP2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 65 has been reported in the published literature.

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

No clinical trials have been registered for developmental and epileptic encephalopathy, 65.

97 publications have been identified in PubMed for developmental and epileptic encephalopathy, 65. Research spans Epidemiology / Natural History (39%), Review / Meta-Analysis (25%), and Clinical Trial Publication (10%).