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GTR Home > Conditions/Phenotypes > X-linked progressive cerebellar ataxia

X-linked progressive cerebellar ataxia

Synonyms
OLIVOPONTOCEREBELLAR ATROPHY, X-LINKED; OPCA, X-LINKED; Spinocerebellar ataxia, X-linked 1
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

SCAX1 is an X-linked recessive neurologic disorder characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia (summary by Bertini et al., 2000). Genetic Heterogeneity of X-linked Spinocerebellar Ataxia X-linked recessive spinocerebellar ataxia (SCAX) is a clinically and genetically heterogeneous disorder. See also SCAX2 (302600), SCAX3 (301790), SCAX4 (301840), and SCAX5 (300703). SCAX6 (301310) is caused by mutation in the ABCB7 gene (300135). [from OMIM]

Available tests

8 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CFAP39, CLA2, OPCA, PMCA3, PMCA3a, SCAX1, ATP2B3
    Summary: ATPase plasma membrane Ca2+ transporting 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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