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developmental and epileptic encephalopathy, 66 (DEE66) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy, 66

MONDO:0054845

Also known as:DEE66EIEE66developmental and epileptic encephalopathy 66

Overview

GeneticsAutosomal dominant · PACS2 (chr 14)

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: Seizure, Intellectual disability, Delayed speech and language development, and Global developmental delay; and very common findings: Thin upper lip vermilion. 45 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	17	Bilateral tonic-clonic seizure, Focal clonic seizure, Seizure

Genetic Landscape

PACS2 function has not been fully characterized.

Developmental and epileptic encephalopathy, 66 is associated with mutations in the PACS2 gene on chromosome 14.

Diagnosis

Genetic testing for PACS2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 66 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features, 1 very common feature, 17 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, 66.

17 publications have been identified in PubMed for developmental and epileptic encephalopathy, 66. Research spans Epidemiology / Natural History (24%), Diagnostic / Biomarker (18%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Disease patterns and progression	4	24%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:46 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618067

Questions for Your Care Team

→Should I pursue genetic testing for PACS2, and what would the results mean for my family?
→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, 66

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

developmental and epileptic encephalopathy, 66

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications