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developmental and epileptic encephalopathy, 80 (DEE80) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy, 80

MONDO:0032822

Also known as:DEE80EIEE80EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80

Overview

GeneticsAutosomal recessive · PIGB (chr 15)

OnsetINFANTILE

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 and Global developmental delay; and very common findings: Elevated circulating alkaline phosphatase concentration and Generalized hypotonia. 45 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Peripheral axonal neuropathy, Seizure, Nerve damage affecting sensation and movement (sensorimotor neuropathy)

Genetic Landscape

PIGB function has not been fully characterized.

Developmental and epileptic encephalopathy, 80 has been associated with mutations in the PIGB gene on chromosome 15.

Diagnosis

Genetic testing for PIGB is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 80 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 2 very common features, 5 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, 80.

106 publications have been identified in PubMed for developmental and epileptic encephalopathy, 80. Research spans Epidemiology / Natural History (44%), Review / Meta-Analysis (16%), and Case Report / Case Series (13%).

Research Type	Count	% of Total
Disease patterns and progression	44	44%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:15 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618580

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, 80

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

developmental and epileptic encephalopathy, 80

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