Version: 8.0.0
Date: Tue Jan 28 2025
lissencephaly 5
DOID:0112230
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • LIS5
Cross References
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None
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