Search Ontology:
Human Disease

neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset

Term ID
DOID:0081364
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. https://pubmed.ncbi.nlm.nih.gov/27545679/
References
Ontology
Human Disease   ( DOID:0081364 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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