OBO ID: DOID:0081364
Term Name: neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset Search Ontology:
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 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SQSTM1 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 617145
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.