Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

polymicrogyria, bilateral perisylvian, X-linked (BPPX) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

polymicrogyria, bilateral perisylvian, X-linked

MONDO:0010314

Also known as:BPPXpolymicrogyria, bilateral perisylvian, X-linked dominantBPP

Overview

GeneticsX-linked

ResearchLimited published research (8 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: Bilateral tonic-clonic seizure, Atypical absence seizure, Difficulty with thinking and memory (cognitive impairment), and Delayed speech and language development and 4 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Bilateral tonic-clonic seizure, Atypical absence seizure, Difficulty with thinking and memory (cognitive impairment)

Diagnosis

Biomarker and diagnostic research for polymicrogyria, bilateral perisylvian, X-linked 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 polymicrogyria, bilateral perisylvian, X-linked.

8 publications have been identified in PubMed for polymicrogyria, bilateral perisylvian, X-linked. Research spans Case Report / Case Series (50%), Epidemiology / Natural History (25%), and Diagnostic / Biomarker (13%).

Recent Publications

Lai A (2026). [PMID: 41670011](https://pubmed.ncbi.nlm.nih.gov/41670011/). *Ann Neurol*. [Review / Meta-Analysis]
Phillips MS (2026). [PMID: 41645581](https://pubmed.ncbi.nlm.nih.gov/41645581/). *Journal of neuropsychology*. [Case Report / Case Series]
Laflamme N (2025). [PMID: 39268972](https://pubmed.ncbi.nlm.nih.gov/39268972/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Parrini E (2025). [PMID: 39219159](https://pubmed.ncbi.nlm.nih.gov/39219159/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Namata TT (2025). [PMID: 39731992](https://pubmed.ncbi.nlm.nih.gov/39731992/). *Pediatric neurology*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300388

GARD

Genetic and Rare Diseases Info Center

GARD:15256

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

polymicrogyria, bilateral perisylvian, X-linked

Overview

Clinical Presentation

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features