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GTR Home > Conditions/Phenotypes > Arthrogryposis, distal, with impaired proprioception and touch

Arthrogryposis, distal, with impaired proprioception and touch

Summary

Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016). [from OMIM]

Available tests

11 tests are in the database for this condition.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C18orf30, C18orf58, DA3, DA5, DAIPT, FAM38B, FAM38B2, HsT748, HsT771, MWKS, PIEZO2
    Summary: piezo type mechanosensitive ion channel component 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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