Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset

Preferred Label : Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset;

NCIt synonyms : NADGP;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the SQSTM1 gene, encoding sequestosome-1. It is characterized by childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy (NADGP).;

Details

Origin ID

C210892;

Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- SQSTM1 Gene [NCIt concept]

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