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Summary Literature (0)
DOID:0060828 - X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome


Disease Ontology 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: MRXS32, mental retardation, X-linked, syndromic 32

Xenbase Genes :

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010473 - X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndromic X-linked intellectual disability (is_a)