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developmental and epileptic encephalopathy, 15 (DEE15) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy, 15

MONDO:0014003

Also known as:DEE15EIEE15developmental and epileptic encephalopathy 15

Overview

GeneticsAutosomal recessive · ST3GAL3 (chr 1)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Primitive reflex, Hypsarrhythmia, Low muscle tone (hypotonia), and Severe global developmental delay and others; and common findings: Atonic seizure. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Bilateral tonic-clonic seizure, Inability to walk, Focal clonic seizure

Genetic Landscape

ST3GAL3 function has not been fully characterized.

Developmental and epileptic encephalopathy, 15 is associated with mutations in the ST3GAL3 gene on chromosome 1.

Diagnosis

Genetic testing for ST3GAL3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 15 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present features, 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for developmental and epileptic encephalopathy, 15.

211 publications have been identified in PubMed for developmental and epileptic encephalopathy, 15. Kisho has analyzed 161 by research type. Research spans Review / Meta-Analysis (22%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (22%).

Research Type	Count	% of Total
Research summaries	36	22%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615006

GARD

Genetic and Rare Diseases Info Center

GARD:15892

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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developmental and epileptic encephalopathy, 15

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

developmental and epileptic encephalopathy, 15

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications