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lissencephaly 6 with microcephaly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lissencephaly 6 with microcephaly

MONDO:0014534

Also known as:KATNB1 MicrolissencephalyMicrolissencephaly caused by mutation in KATNB1lissencephaly 6, with microcephaly

Overview

Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene.

GeneticsAutosomal recessive · KATNB1 (chr 16)

ResearchLimited published research (8 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, Motor delay, Enlarged brain ventricles (ventriculomegaly), and Overactive reflexes (hyperreflexia) and others; and common findings: Shrinkage of the cerebellum (cerebellar atrophy), Enlarged cisterna magna, Pachygyria, and Macrotia and others. 30 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Seizure, Enlarged brain ventricles (ventriculomegaly), Overactive reflexes (hyperreflexia)

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.

KATNB1 encodes katanin regulatory subunit B1 (655 aa). Participates in a complex which severs microtubules in an ATP-dependent manner. May act to target the enzymatic subunit of this complex to sites of action such as the centrosome. Highest expression in Testis (84.6 TPM) and Brain Cortex (54.6 TPM).

Lissencephaly 6 with microcephaly is associated with mutations in the KATNB1 gene on chromosome 16.

KATNB1 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for KATNB1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present features, 6 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 6 with microcephaly.

8 publications have been identified in PubMed for lissencephaly 6 with microcephaly. Research spans Case Report / Case Series (38%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Hwang S (2026). [PMID: 41152456](https://pubmed.ncbi.nlm.nih.gov/41152456/). *J Hum Genet*. [Epidemiology / Natural History]
Achkasova KA (2026). [PMID: 41892327](https://pubmed.ncbi.nlm.nih.gov/41892327/). *Cells*. [Review / Meta-Analysis]
Lelli S (2026). [PMID: 42033392](https://pubmed.ncbi.nlm.nih.gov/42033392/). *J Child Neurol*. [Case Report / Case Series]
Yu T (2025). [PMID: 40017707](https://pubmed.ncbi.nlm.nih.gov/40017707/). *Front Pediatr*. [Case Report / Case Series]
Ragona F (2025). [PMID: 41283299](https://pubmed.ncbi.nlm.nih.gov/41283299/). *NeuroSci*. [Review / Meta-Analysis]
Eun J (2025). [PMID: 39608368](https://pubmed.ncbi.nlm.nih.gov/39608368/). *Clin Exp Pediatr*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616212

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 6 with microcephaly

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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