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syndromic X-linked intellectual disability Claes-Jensen type (DOID:0060809)
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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 behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11.

Disease References using Mouse Models (1)
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)
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11/12/2024
MGI 6.24 		The Jackson Laboratory