microcephaly with lissencephaly and/or hydranencephaly
Findings
No curated finding names microcephaly with lissencephaly and/or hydranencephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0700116), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NDE1HGNC:17619
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- Narrower terms (2)