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GTR Home > Conditions/Phenotypes > Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia

Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia

Summary

Early-onset neurodegeneration with choreoathetoid movements and microcytic anemia (NDCAMA) is an autosomal recessive disorder characterized by severe psychomotor developmental abnormalities, abnormal movements, and functional iron deficiency (Costain et al., 2019). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACO3, IRE-BP 2, IRE-BP2, IRP2, IRP2AD, NDCAMA, IREB2
    Summary: iron responsive element binding protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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