Term Name: | dystonia 33 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0060940] ( DOID:0060940 ) |