Term Name: neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
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.
Ontology: Human Disease [DOID:0081364]   ( DOID:0081364 )

Relationships
is a type of: neurodegenerative disease