Version: 8.0.0
Date: Tue Jan 28 2025
lissencephaly 7 with cerebellar hypoplasia
DOID:0112231
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

lissencephaly 7 with cerebellar hypoplasia

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.
Synonyms
  • LIS7
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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