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developmental and epileptic encephalopathy, 53 (DEE53) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy, 53

MONDO:0033362

Also known as:DEE53EIEE53developmental and epileptic encephalopathy 53

Overview

GeneticsAutosomal recessive · SYNJ1 (chr 21)

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: Progressive neurologic deterioration, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Feeding difficulties, and Seizure and others; and very common findings: Low muscle tone (hypotonia) and Myoclonic seizure. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Bilateral tonic-clonic seizure, Spastic tetraplegia, Dystonia

Genetic Landscape

SYNJ1 function has not been fully characterized.

Developmental and epileptic encephalopathy, 53 is associated with mutations in the SYNJ1 gene on chromosome 21.

Diagnosis

Genetic testing for SYNJ1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 53 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 always present features, 2 very common features, 6 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, 53.

86 publications have been identified in PubMed for developmental and epileptic encephalopathy, 53. Research spans Epidemiology / Natural History (41%), Review / Meta-Analysis (17%), and Case Report / Case Series (12%).

Research Type	Count	% of Total
Disease patterns and progression	35	41%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617389

GARD

Genetic and Rare Diseases Info Center

GARD:16224

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, 53

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, 53

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