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


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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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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