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GTR Home > Conditions/Phenotypes > Basal ganglia calcification, idiopathic, 7, autosomal recessive

Basal ganglia calcification, idiopathic, 7, autosomal recessive

Summary

Autosomal recessive idiopathic basal ganglia calcification-7 is a neurologic disorder characterized by onset of symptoms in adulthood. Patients present with dysarthria, gait abnormalities, various movement abnormalities, and often cognitive decline. Brain imaging shows abnormal accumulation of calcium deposits in deep brain regions, including the basal ganglia, thalamus, dentate nuclei, cerebellum, and sometimes other areas of the brain and spinal cord. Some patients with brain imaging abnormalities may be clinically asymptomatic (summary by Yao et al., 2018). For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600). [from OMIM]

Available tests

5 tests are in the database for this condition.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IBGC7, KIAA1161, NET37, MYORG
    Summary: myogenesis regulating glycosidase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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