Features include always present findings: Abnormal bleeding tendency (abnormal bleeding), Delayed CNS myelination, Flexion contracture, and Seizure and others; and common findings: Hypsarrhythmia, Myoclonic seizure, Atonic seizure, and Tonic seizure and others. 49 total HPO annotations.

ALG13 encodes ALG13 UDP-N-acetylglucosaminyltransferase subunit (1,137 aa). Catalytic subunit of the UDP-N-acetylglucosamine transferase complex that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. Highest expression in Fallopian Tube (24.4 TPM) and Cervix Endocervix (21.1 TPM).

Developmental and epileptic encephalopathy, 36 is associated with mutations in the ALG13 gene on chromosome X.

The ALG13 protein participates in ALG13:ALG14 mutants, ALG13:ALG14 transfers GlcNAc from UDP-GlcNAc to GlcNAcDOLP, and Defective ALG14 does not transfer GlcNAc from UDP-GlcNAc to GlcNAcDOLP pathways.

ALG13 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for ALG13 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 36 has been reported in the published literature.

Phenotype severity distribution: 28 always present features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for developmental and epileptic encephalopathy, 36.

168 publications have been identified in PubMed for developmental and epileptic encephalopathy, 36. Research spans Basic Science / Preclinical (22%), Case Report / Case Series (21%), and Epidemiology / Natural History (21%).