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GTR Home > Conditions/Phenotypes > Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

Synonyms
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 4; Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4

Summary

Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and impaired intellectual development (summary by Gulsuner et al., 2011). For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050). [from OMIM]

Available tests

20 tests are in the database for this condition.

Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATP, ATPIB, CAMRQ4, IB, ML-1, ATP8A2
    Summary: ATPase phospholipid transporting 8A2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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