X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
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 intellectual developmental disorder, X-linked syndromic 32, X-linked recessive, intellectual disability, X-linked, syndromic 32, intellectual disability, X-linked, syndromic type 32, mental retardation, X-linked, syndromic 32, mental retardation, X-linked, syndromic type 32, MRXS32 — per MONDO