Term Name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Synonyms: mental retardation, X-linked, syndromic 32, MRXS32
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.
Ontology: Human Disease [DOID:0060828]   ( DOID:0060828 )

Relationships
is a type of: syndromic X-linked intellectual disability