Disease

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.
Synonyms
  • mental retardation, X-linked, syndromic 32
  • MRXS32
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

Associated Alleles

Associated Models