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

Rare Disease

polymicrogyria, bilateral perisylvian, autosomal recessive

MONDO:0014333

Also known as:polymicrogyria, bilateral perisylvianBPPRPmgr

Overview

GeneticsAutosomal recessive · ADGRG1 (chr 16)

ResearchLimited published research (1 article)

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: Perisylvian polymicrogyria, Language impairment, and Seizure; and very common findings: Intellectual disability. 6 total HPO annotations.

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

Explore clinical features

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).

Polymicrogyria, bilateral perisylvian, autosomal recessive is associated with 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: 3 always present features, 1 very common feature.

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, autosomal recessive.

1 publication has been identified in PubMed for polymicrogyria, bilateral perisylvian, autosomal recessive. Research spans Case Report / Case Series (100%).

Recent Publications

Frolov A (2024). [PMID: 39717325](https://pubmed.ncbi.nlm.nih.gov/39717325/). *Cureus*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615752

GARD

Genetic and Rare Diseases Info Center

GARD:16009

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

polymicrogyria, bilateral perisylvian, autosomal recessive

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team