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| Term | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | ID (Ontology) | DOID:0060828 (Human Disease) |
| 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. | ||
| Also Known As | "mental retardation, X-linked, syndromic 32" ; "MRXS32" | ||
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X-linked monogenic disease_________ syndromic intellectual disability__| syndromic X-linked intellectual disability |__X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome |
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| Is a | syndromic X-linked intellectual disability | ||
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MIM:300886 ORDO:324410 |
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