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lissencephaly 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lissencephaly 4

MONDO:0013527

Also known as:NDE1 lissencephaly (disease)lissencephaly (disease) caused by mutation in NDE1lissencephaly 4 (with microcephaly)

Overview

Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene.

GeneticsAutosomal recessive · NDE1 (chr 16)

OnsetCONGENITAL

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: Wide nasal bridge, Feeding difficulties, Profound intellectual disability, and Global developmental delay and others; and very common findings: Simplified gyral pattern. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Babinski sign, Seizure, Profound intellectual disability

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.

NDE1 encodes nudE neurodevelopment protein 1 (335 aa). Required for centrosome duplication and formation and function of the mitotic spindle. Essential for the development of the cerebral cortex.

Lissencephaly 4 is associated with mutations in the NDE1 gene on chromosome 16.

NDE1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NDE1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 1 very common feature, 10 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 4.

11 publications have been identified in PubMed for lissencephaly 4. Research spans Case Report / Case Series (36%), Basic Science / Preclinical (36%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Patient case studies	4	36%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614019

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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Kisho

lissencephaly 4

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 4

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