Term Name: | neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0081364] ( DOID:0081364 ) |