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GTR Home > Conditions/Phenotypes > Neurodegeneration with brain iron accumulation 7

Neurodegeneration with brain iron accumulation 7

Summary

Neurodegeneration with brain iron accumulation-7 (NBIA7) is characterized by iron accumulation in the basal ganglia and manifests as a progressive extrapyramidal syndrome with dystonia, rigidity, and choreoathetosis. Severity and rate of progression are variable (Drecourt et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200). [from OMIM]

Available tests

7 tests are in the database for this condition.

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Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: NBIA7, RALBP1, REPS1
    Summary: RALBP1 associated Eps domain containing 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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