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developmental and epileptic encephalopathy, 18 (DEE18) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy, 18

MONDO:0014201

Also known as:DEE18EIEE18developmental and epileptic encephalopathy 18

Overview

GeneticsAutosomal recessive · SZT2 (chr 1)

OnsetINFANTILE

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: Low muscle tone (hypotonia) and Profound global developmental delay; and common findings: Oligohydramnios, Polyhydramnios, Absent speech, and Atypical absence seizure and others. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Hyporeflexia, Absent speech, Generalized-onset seizure

Genetic Landscape

SZT2 function has not been fully characterized.

Developmental and epileptic encephalopathy, 18 is associated with mutations in the SZT2 gene on chromosome 1.

Diagnosis

Genetic testing for SZT2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

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

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, 18.

31 publications have been identified in PubMed for developmental and epileptic encephalopathy, 18. Research spans Review / Meta-Analysis (26%), Basic Science / Preclinical (26%), and Epidemiology / Natural History (23%).

Research Type	Count	% of Total
Research summaries	8	26%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615476

Orphanet

European rare disease database

Orphanet:369894

GARD

Genetic and Rare Diseases Info Center

GARD:13676

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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Kisho

developmental and epileptic encephalopathy, 18

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

developmental and epileptic encephalopathy, 18

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications