Term Name: | dystonia 37, early-onset with striatal lesions |
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Synonyms: | |
Definition: | A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21. |
Ontology: | Human Disease [DOID:0060956] ( DOID:0060956 ) |