neurodevelopmental disorder with or without autism or seizures

An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures that

An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures that has_material_basis_in heterozygous mutation in the CUL3 gene on chromosome 2q36.

Signs and symptoms

• Microcephaly
• Delayed speech and language development
• Delayed ability to walk
• Motor delay
• Failure to thrive
• Autistic behavior
• Absent thumb
• Delayed ability to sit
• Seizure
• Infantile spasms