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periventricular heterotopia with microcephaly, autosomal recessive (ARPHM) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

periventricular heterotopia with microcephaly, autosomal recessive

MONDO:0011966

Also known as:ARPHMheterotopia, periventricular, autosomal recessiveperiventricular nodular heterotopia 2

Overview

GeneticsAutosomal recessive · ARFGEF2 (chr 20)

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 sometimes findings: Failure to thrive. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Seizure, Global developmental delay, Severe intellectual disability
Head and neck

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.

ARFGEF2 encodes ARF guanine nucleotide exchange factor 2 (1,785 aa). Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extent on ARF5 and ARF6. Promotes the activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP. Highest expression in Thyroid (37.2 TPM) and Cells EBV-transformed lymphocytes (32.5 TPM).

Periventricular heterotopia with microcephaly, autosomal recessive is caused by mutations in the ARFGEF2 gene on chromosome 20.

ARFGEF2 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for ARFGEF2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for periventricular heterotopia with microcephaly, autosomal recessive 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 periventricular heterotopia with microcephaly, autosomal recessive.

19 publications have been identified in PubMed for periventricular heterotopia with microcephaly, autosomal recessive. Research spans Case Report / Case Series (32%), Review / Meta-Analysis (21%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Patient case studies	6	32%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608097

GARD

Genetic and Rare Diseases Info Center

GARD:15424

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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Kisho

periventricular heterotopia with microcephaly, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

periventricular heterotopia with microcephaly, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications