lissencephaly spectrum disorder with complex brainstem malformation

Go to external page http://purl.obolibrary.org/obo/MONDO_0100472


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). [ https://www.clinicalgenome.org/affiliation/40020/ ]

Synonyms: lissencephaly spectrum disorder with complex brainstem malformation

This is just here as a test because I lose it

Term information

Subsets

rare, inferred_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6271

creator

https://orcid.org/0000-0001-5208-3432

id

MONDO:0100472

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0100472

Term relations