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GTR Home > Conditions/Phenotypes > Dyskinesia with orofacial involvement, autosomal recessive

Dyskinesia with orofacial involvement, autosomal recessive

Summary

Autosomal recessive dyskinesia with orofacial involvement (DSKOR) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder (summary by Bohlega et al., 2019). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AC5, DSKOD, FDFM, ADCY5
    Summary: adenylate cyclase 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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