| 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 | |
| Parent Relationships |
is_a dystonia |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |