Version: 8.0.0
Date: Tue Jan 28 2025
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
DOID:0081364
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
None
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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