Term Name: | lissencephaly 5 |
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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. |
Ontology: | Human Disease [DOID:0112230] ( DOID:0112230 ) |