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syndromic X-linked intellectual disability Claes-Jensen type (DOID:0060809)
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.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/20/2017
MGI 6.10
The Jackson Laboratory