dystonia 37, early-onset with striatal lesions (DOID:0060956)
Alliance: disease page
Alt IDs: OMIM:620427
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.