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developmental and epileptic encephalopathy 106 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy 106

MONDO:0031052

Also known as:DEE106

Overview

GeneticsAutosomal recessive · UFSP2 (chr 4)

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: Cerebellar hypoplasia, Global developmental delay, and Intellectual disability; and very common findings: Low muscle tone (hypotonia). 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Bilateral tonic-clonic seizure, Absent speech, Focal clonic seizure

Genetic Landscape

UFSP2 function has not been fully characterized.

Developmental and epileptic encephalopathy 106 is associated with mutations in the UFSP2 gene on chromosome 4.

Diagnosis

Genetic testing for UFSP2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy 106 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 4 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 106.

27 publications have been identified in PubMed for developmental and epileptic encephalopathy 106. Research spans Basic Science / Preclinical (33%), Clinical Trial Publication (26%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Laboratory research	9	33%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620028

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 106

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 106

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