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lissencephaly 5
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease lissencephaly
External Links
- Disease Ontology
- DOID:0112230
- Mondo Disease Ontology
- OMIM
