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Human Disease

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
Ontology
Human Disease   ( DOID:0060956 )
Relationships
is a type of
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Genes Involved
Zebrafish Models