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

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

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Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010473 - X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

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)