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diencephalic-mesencephalic junction dysplasia syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

diencephalic-mesencephalic junction dysplasia syndrome 2

MONDO:0020762

Also known as:DMJDS2spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia

Overview

GeneticsAutosomal recessive · GSX2 (chr 4)

OnsetINFANTILE

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: Spastic tetraplegia, Decreased thalamic volume, Inability to walk, and Absent speech and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Spastic tetraplegia, Inability to walk, Absent speech

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.

GSX2 encodes GS homeobox 2 (304 aa). Transcription factor that binds 5'-CNAATTAG-3' DNA sequence and regulates the expression of numerous genes including genes important for brain development. Highest expression in Nerve Tibial (0.8 TPM) and Brain Amygdala (0.7 TPM).

Diencephalic-mesencephalic junction dysplasia syndrome 2 has limited evidence linking it to mutations in the GSX2 gene on chromosome 4.

GSX2 is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

Genetic testing for GSX2 is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present 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 diencephalic-mesencephalic junction dysplasia syndrome 2.

1 publication has been identified in PubMed for diencephalic-mesencephalic junction dysplasia syndrome 2. Research spans Case Report / Case Series (100%).

Recent Publications

Xuan X (2026). [PMID: 42087735](https://pubmed.ncbi.nlm.nih.gov/42087735/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 5:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618646

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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diencephalic-mesencephalic junction dysplasia syndrome 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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