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Metadata
ID	DOID:0060956
Name	dystonia 37, early-onset with striatal lesions
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. https://pubmed.ncbi.nlm.nih.gov/36333996/
Xrefs	MIM:620427
Parent Relationships	is_a dystonia is_a autosomal recessive disease