Conditions / Genetic
dystonia 33
info · Genetic
A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22.
Signs and symptoms
- Dystonia
- Limb dystonia
- Axial dystonia
- Babinski sign
- Global developmental delay
- Spasticity
- Axial hypotonia
- Pes cavus
- Neonatal seizure
- Intellectual disability