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GTR Home > Conditions/Phenotypes > Cayman type cerebellar ataxia

Cayman type cerebellar ataxia

Synonyms
Cayman ataxia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Cayman cerebellar ataxia (ATCAY) is an autosomal recessive neurologic disorder characterized by hypotonia from birth, variable psychomotor retardation, and cerebellar dysfunction, including nystagmus, intention tremor, dysarthria, ataxic gait, and truncal ataxia. Although the disorder was initially believed to be restricted to an isolated region of Grand Cayman Island (summary by Nystuen et al., 1996; Bomar et al., 2003), one Pakistani family with the disorder and an ATCAY mutation has been reported, thus expanding the ethnic distribution (Manzoor et al., 2018). [from OMIM]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BNIP-H, CLAC, ATCAY
    Summary: ATCAY kinesin light chain interacting caytaxin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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