FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term lissencephaly 5 ID (Ontology) DOID:0112230 (Human Disease)
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.
Also Known As "LIS5"
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 Genes
 lissencephaly 5       1
 for disease ribbon | lissencephaly 5       1
 model of | lissencephaly 5       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease________
congenital nervous system abnormality  |
 |__lissencephaly______________________|
                                       lissencephaly 5  1 rec.
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Is a lissencephaly
autosomal recessive disease
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Synonyms
  • "LIS5" EXACT OMO:0003012
Secondary IDs
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MIM:615191