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X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

Summary

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes. [from ORDO]

Available tests

11 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLCNL2, CLIC2b, MRXS32, XAP121, CLIC2
    Summary: chloride intracellular channel 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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