Features include always present findings: Low muscle tone (hypotonia) and Profound global developmental delay; and common findings: Lethargy, Axial hypotonia, Hypsarrhythmia, and Choreoathetosis and others. 19 total HPO annotations.

GUF1 encodes GTP binding elongation factor GUF1 (669 aa). Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one-codon backward translocation of tRNAs on improperly translocated ribosomes. Highest expression in Cells EBV-transformed lymphocytes (34.2 TPM) and Cells Cultured fibroblasts (26.7 TPM).

Developmental and epileptic encephalopathy, 40 is associated with mutations in the GUF1 gene on chromosome 4.

GUF1 is classified as a druggable target with score 0.0.

Genetic testing for GUF1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 40 has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 14 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 40.

134 publications have been identified in PubMed for developmental and epileptic encephalopathy, 40. Research spans Epidemiology / Natural History (31%), Review / Meta-Analysis (19%), and Clinical Trial Publication (14%).