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developmental and epileptic encephalopathy, 64 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy, 64

MONDO:0033373

Also known as:RHOBTB2-related disordersDEE64EIEE64

Overview

GeneticsAutosomal dominant · RHOBTB2 (chr 8)

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, and Global developmental delay; and very common findings: Low muscle tone (hypotonia). 41 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	14	Paroxysmal dystonia, Inability to walk, Dystonia

Genetic Landscape

RHOBTB2 function has not been fully characterized.

Developmental and epileptic encephalopathy, 64 is associated with mutations in the RHOBTB2 gene on chromosome 8.

Diagnosis

Genetic testing for RHOBTB2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 64 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 9 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, 64.

56 publications have been identified in PubMed for developmental and epileptic encephalopathy, 64. Research spans Epidemiology / Natural History (36%), Review / Meta-Analysis (20%), and Diagnostic / Biomarker (13%).

Research Type	Count	% of Total
Disease patterns and progression	20	36%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:46 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618004

Questions for Your Care Team

→Should I pursue genetic testing for RHOBTB2, 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, 64

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, 64

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