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dystonia 33
Summary
- Definition
- 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.
- Super Class
- autosomal dominant disease dystonia
External Links
- Disease Ontology
- DOID:0060940
- Mondo Disease Ontology
- OMIM
