You are using an outdated browser. Please upgrade your browser to improve your experience.
lissencephaly with cerebellar hypoplasia
Disease Summary
Associated Targets ()
Mondo Description Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.
Mondo Term and Equivalent IDs
MONDO:0019450: lissencephaly with cerebellar hypoplasia
Download Data for lissencephaly with cerebellar hypoplasia
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:86823
SCTID:715817007
UMLS:C4274995
MONDO:0019450
High level summary of knowledge for a disease, including descriptions and datasource references.