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cobblestone lissencephaly without muscular or ocular involvement
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.
Uniprot Description An autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development.
Mondo Term and Equivalent IDs
MONDO:0014077: cobblestone lissencephaly without muscular or ocular involvement
Download Data for cobblestone lissencephaly without muscular or ocular involvement
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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.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:615191
Orphanet:352682
UMLS:C3554657
MONDO:0014077
High level summary of knowledge for a disease, including descriptions and datasource references.