X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
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.
MONDO:0020119
X-linked syndromic intellectual disability
is_a
MRXS32
exact
intellectual developmental disorder, X-linked syndromic 32, X-linked recessive
exact
intellectual disability, X-linked, syndromic 32
exact
intellectual disability, X-linked, syndromic type 32
exact
mental retardation, X-linked, syndromic 32
exact
mental retardation, X-linked, syndromic type 32
exact