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developmental and epileptic encephalopathy, 44 (DEE44) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy, 44

MONDO:0014933

Also known as:DEE44EIEE44UBA5 early infantile epileptic encephalopathy

Overview

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene.

GeneticsAutosomal recessive · UBA5 (chr 3)

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: Dystonia, Axial hypotonia, Global developmental delay, and Epileptic encephalopathy and others; and very common findings: Seizure, Severe intellectual disability, Absent speech, and Secondary microcephaly and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Dystonia, Seizure, Severe intellectual disability

Genetic Landscape

UBA5 function has not been fully characterized.

Developmental and epileptic encephalopathy, 44 is associated with mutations in the UBA5 gene on chromosome 3.

Diagnosis

Genetic testing for UBA5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 44 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features, 5 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, 44.

74 publications have been identified in PubMed for developmental and epileptic encephalopathy, 44. Research spans Epidemiology / Natural History (35%), Review / Meta-Analysis (23%), and Diagnostic / Biomarker (12%).

Research Type	Count	% of Total
Disease patterns and progression	26	35%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617132

GARD

Genetic and Rare Diseases Info Center

GARD:16198

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, 44

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, 44

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