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

autosomal recessive frontotemporal pachygyria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive frontotemporal pachygyria

MONDO:0012462

Also known as:pachygyria, frontotemporal

Overview

GeneticsAutosomal recessive

ResearchLimited published research (3 articles)

Clinical Presentation

Features include: Moderate intellectual disability, Seizure, Telecanthus, and Hypertelorism and 2 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Moderate intellectual disability, Seizure

Explore clinical features

Prognosis

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 autosomal recessive frontotemporal pachygyria.

3 publications have been identified in PubMed for autosomal recessive frontotemporal pachygyria. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Epidemiology / Natural History (33%).

Recent Publications

Kaur N (2025). [PMID: 39470296](https://pubmed.ncbi.nlm.nih.gov/39470296/). *Am J Med Genet A*. [Epidemiology / Natural History]
Newman JM (2025). [PMID: 40974083](https://pubmed.ncbi.nlm.nih.gov/40974083/). *J Neuropathol Exp Neurol*. [Case Report / Case Series]
Bonati MT (2024). [PMID: 38927613](https://pubmed.ncbi.nlm.nih.gov/38927613/). *Genes (Basel)*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 2:06 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610279

Orphanet

European rare disease database

Orphanet:329329

GARD

Genetic and Rare Diseases Info Center

GARD:21489

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?

← Back to All Diseases

autosomal recessive frontotemporal pachygyria

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team