autosomal dominant intellectual developmental disorder 55

An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous

An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22.

Signs and symptoms

• EEG abnormality
• Seizure
• Ataxia
• Epileptic encephalopathy
• Intellectual disability
• Tremor
• Bilateral tonic-clonic seizure
• Delayed speech and language development
• Generalized non-motor (absence) seizure
• Global developmental delay

Also known as: autosomal dominant intellectual developmental disorder-55 with seizures; autosomal dominant mental retardation 55