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encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy (PEBEL) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy

MONDO:0014960

Also known as:PEBELencephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBELencephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy; PEBEL

Overview

OnsetCHILDHOOD

Diagnosis

Biomarker and diagnostic research for encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy has been reported in the published literature.

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 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy.

203 publications have been identified in PubMed for encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy. Research spans Basic Science / Preclinical (28%), Case Report / Case Series (25%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Laboratory research	52	28%

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 11:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy

Overview

Diagnosis

Research Landscape

Medical References

Subtypes

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Questions for Your Care Team

Questions for Your Care Team

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