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

Rare Disease

MONDO:0010473

Also Known As

MRXS32intellectual developmental disorder, X-linked syndromic 32, X-linked recessiveintellectual disability, X-linked, syndromic 32intellectual disability, X-linked, syndromic type 32mental retardation, X-linked, syndromic 32mental retardation, X-linked, syndromic type 32

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.