This website is for informational and educational purposes only. Please do not self-medicate; contact a medical professional for advice before administration. This website is for informational and educational purposes only. Please do not self-medicate; contact a medical professional for advice before administration.

Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset

Disease ID: disease_node_16100

Connections displayed (default: 10).
Loading graph...

DbxrefMIM:617145
SubclassofDOID_1289
Data SourceDOID
Doid Labelneurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Doid DescriptionA 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.
Disease Node Iddisease_node_16100
Doid IdDOID_0081364
LabelNeurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset