neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities

An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development, febrile seizures or epilepsy, facial dysmorphism, and behavioral abnormalities that has_material_basis_in heterozygous mutation in

An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development, febrile seizures or epilepsy, facial dysmorphism, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KLHL20 gene on chromosome 1q25.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Square face
• Mild intellectual disability
• Moderate intellectual disability
• Trigonocephaly
• Focal impaired awareness seizure
• Seizure
• Myoclonic seizure
• Thin corpus callosum
• Infantile spasms

Also known as: NEDSZFB