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Summary Literature (0)
DOID:0060809 - syndromic X-linked intellectual disability Claes-Jensen type

Disease Ontology 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 behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11.

Synonyms: MRXSCJ, MRXSJ, mental retardation, X-linked, syndromic, Claes-Jensen type, syndromic X-linked intellectual disability due to JARID1C mutation, syndromic X-linked mental retardation JARID1C-related,

Xenbase Genes : kdm5c

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010355 - syndromic X-linked intellectual disability Claes-Jensen type


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)