developmental and epileptic encephalopathy 87

A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_materi

A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21.

Signs and symptoms

• Hypertonia
• Wide mouth
• Seizure
• Global developmental delay
• Prominent nose
• Bulbous nose
• Intellectual disability
• Widely spaced teeth
• Infantile spasms
• Hypotelorism

Also known as: DEE87; early infantile epileptic encephalopathy 87