Search Ontology:
Human Disease

lissencephaly 5

Term ID
DOID:0112230
Synonyms
  • LIS5
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 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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