lissencephaly spectrum disorder with complex brainstem malformation
Findings
No curated finding names lissencephaly spectrum disorder with complex brainstem malformation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A lissencephaly spectrum disorder that manifests as posterior predominant pachygyria (ranging from mild severity to classic lissencephaly) and brainstem malformations which include brainstem dysplasia (typically with reduced anteroposterior thickness and transverse broadening of the pons/medulla) and midline crossing defects (anterior commissure, transverse pontine fibers, pyramidal tract, callosum hypoplasia).
Definition from the Mondo Disease Ontology (MONDO:0100472), 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.
- HGNC:13664HGNC:13664
- Moderate · ClinGen · Autosomal dominant · 2023
Where it sits
- A kind of
- Narrower terms (1)