lissencephaly 7 with cerebellar hypoplasia

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

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.

Signs and symptoms

• Seizure
• Agenesis of corpus callosum
• Agyria
• Downturned corners of mouth
• Lymphedema
• Hirsutism
• Hand clenching
• Cerebellar hypoplasia
• Full cheeks
• Small forehead

Also known as: LIS7