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GTR Home > Conditions/Phenotypes > Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset

Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset

Summary

Childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy (NADGP) is an autosomal recessive progressive disorder characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades. Additional features include dysarthria, dystonia, and athetoid movements. Some patients may become wheelchair-bound as young adults (summary by Haack et al., 2016). [from OMIM]

Available tests

20 tests are in the database for this condition.

Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: A170, DMRV, EBIAP, FTDALS3, NADGP, OSIL, PDB3, ZIP3, p60, p62, p62B, SQSTM1
    Summary: sequestosome 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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