X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

Term ID

DOID:0060828

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. https://www.ncbi.nlm.nih.gov/pubmed/22814392

References

• MIM:300886
• ORDO:324410

Ontology

Human Disease   ( DOID:0060828 )