FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term lissencephaly 7 with cerebellar hypoplasia ID (Ontology) DOID:0112231 (Human Disease)
Definition A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1.
Also Known As "LIS7"
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 Genes
 lissencephaly 7 with cerebellar hypoplasia       1
 for disease ribbon | lissencephaly 7 with cerebellar hypoplasia       1
 model of | lissencephaly 7 with cerebellar hypoplasia       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease________
congenital nervous system abnormality  |
 |__lissencephaly______________________|
                                       lissencephaly 7 with cerebellar hypoplasia  1 rec.
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Is a lissencephaly
autosomal recessive disease
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Synonyms
  • "LIS7" EXACT OMO:0003012
Secondary IDs
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MIM:616342