Term Name: | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome |
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Synonyms: | mental retardation, X-linked, syndromic 32, MRXS32 |
Definition: | A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28. |
Ontology: | Human Disease [DOID:0060828] ( DOID:0060828 ) |