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lissencephaly 8 (LIS8) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lissencephaly 8

MONDO:0014992

Also known as:LIS8TMTC3 lissencephaly (disease)lissencephaly (disease) caused by mutation in TMTC3

Overview

Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene.

GeneticsAutosomal recessive · TMTC3 (chr 12)

OnsetINFANTILE

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: Delayed fine motor development, Intellectual disability, Axial hypotonia, and Delayed speech and language development and others; and common findings: Hypoplasia of the brainstem, Seizure, Agyria, and Type II lissencephaly and others. 29 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Hypoplasia of the brainstem, Seizure, Cerebral hypomyelination

Genetic Landscape

TMTC3 function has not been fully characterized.

Lissencephaly 8 is associated with mutations in the TMTC3 gene on chromosome 12.

Diagnosis

Genetic testing for TMTC3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for lissencephaly 8 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present features, 9 common 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 lissencephaly 8.

15 publications have been identified in PubMed for lissencephaly 8. Research spans Case Report / Case Series (40%), Review / Meta-Analysis (27%), and Basic Science / Preclinical (27%).

Research Type	Count	% of Total
Patient case studies	6	40%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:28 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617255

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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lissencephaly 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

lissencephaly 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications