Conditions / Genetic
neurodevelopmental disorder with involuntary movements
info · Genetic
A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the GNAO1 gene on chromosome 16q13.
Signs and symptoms
- Severe intellectual disability
- Poor head control
- Focal impaired awareness seizure
- Cerebral atrophy
- Absent speech
- Hyperkinetic movements
- Dystonia
- Generalized hypotonia
- Multifocal epileptiform discharges
- Ventriculomegaly
Also known as: NEDIM