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neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Summary
- 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.
- Super Class
- neurodegenerative disease
External Links
- Disease Ontology
- DOID:0081364
- Mondo Disease Ontology
- OMIM
