Term Name: | lissencephaly 7 with cerebellar hypoplasia |
---|---|
Synonyms: | LIS7 |
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. |
Ontology: | Human Disease [DOID:0112231] ( DOID:0112231 ) |