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GTR Home > Conditions/Phenotypes > Arthrogryposis multiplex congenita 5

Arthrogryposis multiplex congenita 5

Summary

Arthrogryposis multiplex congenita-5 (AMC5) is an autosomal recessive disorder characterized by severe joint contractures apparent at birth. Affected individuals usually have hypertonia and abnormal movements suggestive of dystonia, as well as feeding and/or breathing difficulties. More variable features may include poor overall growth, strabismus, dysmorphic facies, and global developmental delay with impaired speech (summary by Kariminejad et al., 2017). [from OMIM]

Available tests

9 tests are in the database for this condition.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AMC5, DQ2, DYT1, TOR1A
    Summary: torsin family 1 member A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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