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.