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

lissencephaly 9 with complex brainstem malformation (LIS9) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lissencephaly 9 with complex brainstem malformation

MONDO:0032677

Also known as:LIS9

Overview

GeneticsAutosomal dominant · MACF1 (chr 1)

ResearchLimited published research (7 articles)

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: Seizure, Dysgenesis of the hippocampus, Severe intellectual disability, and Pachygyria and others; and very common findings: Hypoplasia of the brainstem, Hypoplasia of the pons, and Delayed ability to walk. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Bilateral tonic-clonic seizure, Hypoplasia of the brainstem, Seizure

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.

MACF1 encodes microtubule actin crosslinking factor 1 (7,388 aa). F-actin-binding protein which plays a role in cross-linking actin to other cytoskeletal proteins and also binds to microtubules. Highest expression in Lung (65.0 TPM) and Artery Tibial (50.4 TPM).

Lissencephaly 9 with complex brainstem malformation is associated with mutations in the MACF1 gene on chromosome 1.

The MACF1 protein participates in p-BRAF(1-380)-MACF1(600-7388) fusion pathway.

MACF1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MACF1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features, 3 very common features, 11 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 9 with complex brainstem malformation.

7 publications have been identified in PubMed for lissencephaly 9 with complex brainstem malformation. Research spans Case Report / Case Series (29%), Epidemiology / Natural History (29%), and Review / Meta-Analysis (14%).

Recent Publications

Hwang S (2026). [PMID: 41152456](https://pubmed.ncbi.nlm.nih.gov/41152456/). *J Hum Genet*. [Review / Meta-Analysis]
Xi J (2026). [PMID: 41629993](https://pubmed.ncbi.nlm.nih.gov/41629993/). *Hum Genomics*. [Case Report / Case Series]
Kava H (2025). [PMID: 40083435](https://pubmed.ncbi.nlm.nih.gov/40083435/). *Front Pediatr*. [Epidemiology / Natural History]
Bazazzadegan N (2025). [PMID: 40001331](https://pubmed.ncbi.nlm.nih.gov/40001331/). *Arch Iran Med*. [Case Report / Case Series]
Lei XY (2025). [PMID: 40350249](https://pubmed.ncbi.nlm.nih.gov/40350249/). *J Med Genet*. [Gene Therapy / Novel Therapeutics]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618325

Orphanet

European rare disease database

Orphanet:572013

GARD

Genetic and Rare Diseases Info Center

GARD:18007

Questions for Your Care Team

→Should I pursue genetic testing for MACF1, and what would the results mean for my family?
→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

lissencephaly 9 with complex brainstem malformation

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features