| Metadata | |
|---|---|
| ID | DOID:0081364 |
| Name | neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset |
| Definition | A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35. https://pubmed.ncbi.nlm.nih.gov/27545679/ |
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