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developmental and epileptic encephalopathy 119 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy 119

MONDO:1060177

Also known as:DEE119RNU2-2 developmental and epileptic encephalopathyRNU2-2 syndrome

Overview

A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported variants are de novo. It is characterized by global developmental delay, hypotonia, impaired intellectual development, microcephaly, autistic behavior, and characteristically complex seizures.

GeneticsAutosomal dominant · RNU2-2 (chr 11)

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: Poor head control, Increased body weight, Macrodontia, and Dystonia and others; and very common findings: Absent speech, Sleep disturbance, Motor delay, and Motor stereotypy and others. 100 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	33	Encephalopathy, Focal clonic seizure, Dystonia

Genetic Landscape

RNU2-2 function has not been fully characterized.

Developmental and epileptic encephalopathy 119 is strongly associated with mutations in the RNU2-2 gene on chromosome 11.

Diagnosis

Genetic testing for RNU2-2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy 119 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 62 always present features, 6 very common features, 16 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 119.

24 publications have been identified in PubMed for developmental and epileptic encephalopathy 119. Research spans Basic Science / Preclinical (42%), Epidemiology / Natural History (21%), and Diagnostic / Biomarker (13%).

Research Type	Count	% of Total
Laboratory research	10	42%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 6:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:621304

Questions for Your Care Team

→Should I pursue genetic testing for RNU2-2, 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 119

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 119

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