Features include always present findings: Epicanthus, Downslanted palpebral fissures, Profound intellectual disability, and Severe muscular hypotonia and others; and very common findings: Infantile spasms and Inner ear hearing loss (sensorineural hearing impairment). 17 total HPO annotations.

DMXL2 encodes Dmx like 2 (3,036 aa). May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles. Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes Highest expression in Brain Cerebellar Hemisphere (22.0 TPM) and Brain Cerebellum (20.8 TPM).

Developmental and epileptic encephalopathy, 81 is associated with mutations in the DMXL2 gene on chromosome 15.

DMXL2 is classified as a druggable target with score 0.0.

Genetic testing for DMXL2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 81 has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 2 very common features, 8 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 81.

58 publications have been identified in PubMed for developmental and epileptic encephalopathy, 81. Research spans Epidemiology / Natural History (31%), Review / Meta-Analysis (19%), and Clinical Trial Publication (14%).