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

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.

Signs and symptoms

• Cardiomegaly
• Seizure
• Profound intellectual disability
• Global developmental delay
• Macroorchidism
• Congestive heart failure
• Macrotia
• Kyphoscoliosis
• Spastic tetraplegia
• Absent speech

Also known as: MRXS32; mental retardation, X-linked, syndromic 32