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 )

Relationships
is a type of: autosomal recessive disease lissencephaly