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microcephaly with lissencephaly and/or hydranencephaly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly with lissencephaly and/or hydranencephaly

MONDO:0700116

Overview

A brain disorder caused by biallelic variants in NDE1 that is characterized by extreme microcephaly (typically head circumference of more than 10 standard deviations (SD) below the mean), profound motor and intellectual disability, spasticity, and incomplete cerebral formation. Radiologic studies demonstrate overt microcephaly with cortical dysgenesis ranging from simplification to pachygyria/lissencephaly to hydranencephaly. Agenesis of the corpus callosum as well as hypoplasia of the brainstem and cerebellum are typically present.

OnsetCONGENITAL

Diagnosis

Biomarker and diagnostic research for microcephaly with lissencephaly and/or hydranencephaly 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 microcephaly with lissencephaly and/or hydranencephaly.

55 publications have been identified in PubMed for microcephaly with lissencephaly and/or hydranencephaly. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (16%).

Research Type	Count	% of Total
Patient case studies	21	38%

Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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microcephaly with lissencephaly and/or hydranencephaly

Overview

Diagnosis

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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