Features include always present findings: Bilateral tonic-clonic seizure, Tented upper lip vermilion, Coarse facial features, and Microcephaly and others; and common findings: Exaggerated startle response, Dysplastic corpus callosum, Myoclonic seizure, and Anxiety and others. 40 total HPO annotations.

DENND5A encodes DENN domain containing 5A (1,287 aa). Guanine nucleotide exchange factor (GEF) which may activate RAB6A and RAB39A and/or RAB39B. Highest expression in Brain Spinal cord cervical c-1 (110.8 TPM) and Nerve Tibial (76.9 TPM).

Developmental and epileptic encephalopathy, 49 is associated with mutations in the DENND5A gene on chromosome 11.

The DENND5A protein participates in DENND5A,B exchange GTP for GDP on RAB39 pathway.

DENND5A is classified as a druggable target with score 0.0.

Genetic testing for DENND5A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 49 has been reported in the published literature.

Phenotype severity distribution: 14 always present features, 19 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 49.

60 publications have been identified in PubMed for developmental and epileptic encephalopathy, 49. Research spans Epidemiology / Natural History (33%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (12%).