dystonia 37, early-onset with striatal lesions

Term ID

DOID:0060956

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. https://pubmed.ncbi.nlm.nih.gov/36333996/

References

• OMIM:620427

Ontology

Human Disease   ( DOID:0060956 )