About   Help   FAQ
Disease Ontology Browser
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (DOID:0060828)
Alliance: disease page
Synonyms: mental retardation, X-linked, syndromic 32; MRXS32
Alt IDs: OMIM:300886, ORDO:324410
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory