Features include always present findings: Oligohydramnios, Absent speech, Dystonia, and Myoclonic seizure and others; and common findings: Gastrostomy tube feeding in infancy, Microcephaly, Small for gestational age, and CNS hypomyelination.

DALRD3 encodes DALR anticodon binding domain containing 3 (543 aa). Involved in tRNA methylation. Facilitates the recognition and targeting of tRNA(Arg)(CCU) and tRNA(Arg)(UCU) substrates for N(3)-methylcytidine modification by METTL2A and METTL2B Highest expression in Testis (125.7 TPM) and Thyroid (59.0 TPM).

Developmental and epileptic encephalopathy, 86 is associated with mutations in the DALRD3 gene on chromosome 3.

DALRD3 is classified as a druggable target with score 0.0.

Genetic testing for DALRD3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 86 has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 4 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 86.

48 publications have been identified in PubMed for developmental and epileptic encephalopathy, 86. Research spans Epidemiology / Natural History (33%), Review / Meta-Analysis (23%), and Case Report / Case Series (17%).