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early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (PEBAT) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

MONDO:0044646

Also known as:PEBATencephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosumencephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT

Overview

GeneticsAutosomal recessive · TBCD (chr 17)

ResearchLimited published research (4 articles)

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: Lower limb spasticity, Muscle weakness, Intellectual disability, and Global developmental delay and others; and very common findings: Seizure, Hypoplasia of the corpus callosum, Upper limb spasticity, and Brisk reflexes and others. 55 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	20	Encephalopathy, Bilateral tonic-clonic seizure, Inability to walk

Genetic Landscape

TBCD function has not been fully characterized.

Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome is caused by mutations in the TBCD gene on chromosome 17.

Diagnosis

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

Prognosis

Phenotype severity distribution: 7 always present features, 5 very common features, 15 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome.

4 publications have been identified in PubMed for early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Yang W (2026). [PMID: 41647755](https://pubmed.ncbi.nlm.nih.gov/41647755/). *Front Hum Neurosci*. [Case Report / Case Series]
Ahmad SR (2025). [PMID: 40371665](https://pubmed.ncbi.nlm.nih.gov/40371665/). *Clin Genet*. [Case Report / Case Series]
Watanabe R (2025). [PMID: 40677151](https://pubmed.ncbi.nlm.nih.gov/40677151/). *Alzheimers Dement*. [Case Report / Case Series]
Taneda T (2024). [PMID: 38797686](https://pubmed.ncbi.nlm.nih.gov/38797686/). *Rinsho Shinkeigaku*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617193

Orphanet

European rare disease database

Orphanet:496641

GARD

Genetic and Rare Diseases Info Center

GARD:17911

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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early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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