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GTR Home > Conditions/Phenotypes > Neurodegeneration with brain iron accumulation 8

Neurodegeneration with brain iron accumulation 8

Summary

Neurodegeneration with brain iron accumulation-8 (NBIA8) is characterized by iron accumulation in the basal ganglia and manifests as a progressive extrapyramidal syndrome with dystonia, rigidity, and choreoathetosis (Drecourt et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200). [from OMIM]

Available tests

6 tests are in the database for this condition.

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Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CAT, CAT1, NBIA8, CRAT
    Summary: carnitine O-acetyltransferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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