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
Features include always present findings: Axial hypotonia, Progressive microcephaly, Dystonia, and Focal clonic seizure and others; and common findings: Hypsarrhythmia, Infantile spasms, Tonic seizure, and Premature birth. 17 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 9 | Spastic tetraplegia, Dystonia, Generalized myoclonic seizure |
PCDH12 function has not been fully characterized.
Diencephalic-mesencephalic junction dysplasia syndrome 1 is associated with mutations in the PCDH12 gene on chromosome 5.
Genetic testing for PCDH12 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 9 always present features, 4 common features.
No clinical trials have been registered for diencephalic-mesencephalic junction dysplasia syndrome 1.
12 publications have been identified in PubMed for diencephalic-mesencephalic junction dysplasia syndrome 1. Research spans Case Report / Case Series (42%), Epidemiology / Natural History (25%), and Review / Meta-Analysis (17%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 5 | 42% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:50 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Head and neck |
2 |
Progressive microcephaly, Primary microcephaly |
Muscles | 1 | Axial hypotonia |
Eyes | 1 | Visual impairment |
Growth and development | 1 | Intrauterine growth retardation |
Age of onset: infancy.
Disease patterns and progression |
3 |
25% |
Research summaries | 2 | 17% |
Laboratory research | 2 | 17% |
Booalizadeh P (2026). [PMID: 42213295](https://pubmed.ncbi.nlm.nih.gov/42213295/). *J Mol Neurosci*. [Basic Science / Preclinical]
Xuan X (2026). [PMID: 42087735](https://pubmed.ncbi.nlm.nih.gov/42087735/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Bland EM (2026). [PMID: 42178607](https://pubmed.ncbi.nlm.nih.gov/42178607/). *Am J Med Genet A*. [Case Report / Case Series]
Drobňaková S (2026). [PMID: 42195294](https://pubmed.ncbi.nlm.nih.gov/42195294/). *Life (Basel)*. [Epidemiology / Natural History]
Tortora M (2026). [PMID: 41269339](https://pubmed.ncbi.nlm.nih.gov/41269339/). *Neuroradiology*. [Review / Meta-Analysis]
Rakotomamonjy J (2026). [PMID: 41867234](https://pubmed.ncbi.nlm.nih.gov/41867234/). *medRxiv*. [Basic Science / Preclinical]
Mujahed RH (2026). [PMID: 41934118](https://pubmed.ncbi.nlm.nih.gov/41934118/). *J Investig Med High Impact Case Rep*. [Case Report / Case Series]
Sufrani MA (2026). [PMID: 41580645](https://pubmed.ncbi.nlm.nih.gov/41580645/). *BMC Pediatr*. [Case Report / Case Series]
Aydin H (2025). [PMID: 40263931](https://pubmed.ncbi.nlm.nih.gov/40263931/). *Dev Neurobiol*. [Review / Meta-Analysis]
Chalipat S (2024). [PMID: 39310498](https://pubmed.ncbi.nlm.nih.gov/39310498/). *Cureus*. [Case Report / Case Series]