About   Help   FAQ
Disease Ontology Browser
syndromic X-linked intellectual disability Claes-Jensen type (DOID:0060809)
Alliance: disease page
Synonyms: mental retardation, X-linked, syndromic, Claes-Jensen type; MRXSCJ; MRXSJ; syndromic X-linked intellectual disability due to JARID1C mutation; syndromic X-linked mental retardation JARID1C-related
Alt IDs: OMIM:300534, ICD10CM:Q87.8, ORDO:85279
Definition: A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.12
The Jackson Laboratory