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Metadata
ID DOID:0060940
Name dystonia 33
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/
Xrefs

MIM:619687

Parent Relationships

is_a dystonia

is_a autosomal recessive disease

is_a autosomal dominant disease

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