Search Ontology:
Human Disease
leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus
- Term ID
- DOID:0112230
- Synonyms
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- LIS5
- lissencephaly 5
- Definition
- A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1. (2)
- References
- Ontology
- Human Disease ( DOID:0112230 )
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Genes Involved
Zebrafish Models