Conditions / Genetic
autosomal dominant intellectual developmental disorder 6
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1.
Signs and symptoms
- Bilateral tonic-clonic seizure
- Status epilepticus
- Focal impaired awareness seizure
- Global developmental delay
- Atypical behavior
- Intellectual disability
- EEG abnormality
- Dystonia
- Generalized hypotonia
- Chorea
Also known as: MRD6; autosomal dominant mental retardation 6; autosomal dominant non-syndromic intellectual disability 6