autosomal dominant intellectual developmental disorder 60 with seizures

An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome

An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27.

Signs and symptoms

• Generalized hypotonia
• Intellectual disability
• Truncal ataxia
• Gait ataxia
• Atonic seizure
• Absence seizure with eyelid myoclonia
• EEG with spike-wave complexes
• Atypical absence seizure
• Autistic behavior
• Bilateral tonic-clonic seizure

Also known as: MRD60