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

• MIM:617145

Ontology

Human Disease   ( DOID:0081364 )