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bilateral frontoparietal polymicrogyria (BFPP) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

bilateral frontoparietal polymicrogyria

MONDO:0011738

Also known as:BFPPcerebellar ataxia with neuronal migration defectpolymicrogyria, bilateral frontoparietal

Overview

A descriptive term reflecting increased gyral folding in the frontoparietal regions as determined by magnetic resonance imaging. It has subsequently been shown to represent a cobblestone malformation on histopathology. BFPP typically presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non-progressive cerebellar ataxia, deconjugate gaze, and/or strabismus.

GeneticsAutosomal recessive · ADGRG1 (chr 16)

ResearchLimited published research (3 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: Hypertonia, Truncal ataxia, Dysmetria, and Perisylvian polymicrogyria and others; and very common findings: Seizure, Cerebral dysmyelination, Enlarged brain ventricles (ventriculomegaly), and Intellectual disability and others. 37 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	17	Broad-based gait, Truncal ataxia, Babinski sign

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ADGRG1 encodes adhesion G protein-coupled receptor G1 (693 aa). Adhesion G-protein coupled receptor (aGPCR) for steroid hormone 17alpha-hydroxypregnenolone (17-OH), which is involved in cell adhesion and cell-cell interactions. Highest expression in Thyroid (115.6 TPM) and Kidney Medulla (94.0 TPM).

Bilateral frontoparietal polymicrogyria is caused by mutations in the ADGRG1 gene on chromosome 16.

ADGRG1 is classified as a druggable target (Druggable Genome and G Protein Coupled Receptor categories) with score 0.0.

56 pathogenic variants reported in ADGRG1 in ClinVar, including hotspot variants 888059 and 158631.

Variant

Diagnosis

Genetic testing for ADGRG1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 7 very common features, 10 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 bilateral frontoparietal polymicrogyria.

3 publications have been identified in PubMed for bilateral frontoparietal polymicrogyria. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Javed K (2026). [PMID: 41347281](https://pubmed.ncbi.nlm.nih.gov/41347281/). *Ann Hum Genet*. [Case Report / Case Series]
Kwarcinski FE (2026). [PMID: 42018412](https://pubmed.ncbi.nlm.nih.gov/42018412/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]
Qi W (2024). [PMID: 38942087](https://pubmed.ncbi.nlm.nih.gov/38942087/). *Biochem Pharmacol*. [Review / Meta-Analysis]

Data assembled from 8 of 12 sources · Last updated Sep 18, 2026, 7:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606854

Orphanet

European rare disease database

Orphanet:101070

GARD

Genetic and Rare Diseases Info Center

GARD:10784

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
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→Is there a patient registry I should consider joining?

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bilateral frontoparietal polymicrogyria

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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