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lissencephaly spectrum disorder with complex brainstem malformation - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lissencephaly spectrum disorder with complex brainstem malformation

MONDO:0100472

Overview

A lissencephaly spectrum disorder that manifests as posterior predominant pachygyria (ranging from mild severity to classic lissencephaly) and brainstem malformations which include brainstem dysplasia (typically with reduced anteroposterior thickness and transverse broadening of the pons/medulla) and midline crossing defects (anterior commissure, transverse pontine fibers, pyramidal tract, callosum hypoplasia).

ResearchLimited published research (9 articles)

Diagnosis

Biomarker and diagnostic research for lissencephaly spectrum disorder with complex brainstem malformation 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 lissencephaly spectrum disorder with complex brainstem malformation.

9 publications have been identified in PubMed for lissencephaly spectrum disorder with complex brainstem malformation. Research spans Case Report / Case Series (22%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (22%).

Recent Publications

Xi J (2026). [PMID: 41629993](https://pubmed.ncbi.nlm.nih.gov/41629993/). *Hum Genomics*. [Case Report / Case Series]
Hwang S (2026). [PMID: 41152456](https://pubmed.ncbi.nlm.nih.gov/41152456/). *J Hum Genet*. [Epidemiology / Natural History]
Lei XY (2025). [PMID: 40350249](https://pubmed.ncbi.nlm.nih.gov/40350249/). *J Med Genet*. [Gene Therapy / Novel Therapeutics]
Chenyue Z (2025). [PMID: 40603987](https://pubmed.ncbi.nlm.nih.gov/40603987/). *Sci Rep*. [Epidemiology / Natural History]
Dekker J (2025). [PMID: 40925378](https://pubmed.ncbi.nlm.nih.gov/40925378/). *Am J Hum Genet*. [Review / Meta-Analysis]

Data assembled from 2 of 12 sources · Last updated Sep 18, 2026, 2:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

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lissencephaly spectrum disorder with complex brainstem malformation

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

Subtypes

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Questions for Your Care Team

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