About   Help   FAQ
Disease Ontology Browser
Tonne-Kalscheuer syndrome (DOID:0112042)
Alliance: disease page
Synonyms: intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia; MRX61; TOKAS; X-linked mental retardation 61
Alt IDs: OMIM:300978
Definition: A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2.


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