dystonia 33

Term ID

DOID:0060940

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. https://pubmed.ncbi.nlm.nih.gov/33236446/

References

• OMIM:619687

Ontology

Human Disease   ( DOID:0060940 )