Metadata | |
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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 | |
Parent Relationships |
is_a dystonia |