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X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (DOID:0060828)
Alliance: disease page
Synonyms: mental retardation, X-linked, syndromic 32; MRXS32
Alt IDs: OMIM:300886, ORDO:324410
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/05/2024
MGI 6.24
The Jackson Laboratory