autosomal dominant intellectual developmental disorder 45

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13.

Signs and symptoms

• Motor delay
• Poor speech
• Intellectual disability
• Delayed speech and language development
• Global developmental delay
• Bilateral tonic-clonic seizure
• Focal impaired awareness seizure
• Generalized non-motor (absence) seizure
• Sleep disturbance
• Hypotonia

Also known as: autosomal dominant mental retardation 45