Term Name: | syndromic X-linked intellectual disability Claes-Jensen type |
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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 |
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. |
Ontology: | Human Disease [DOID:0060809] ( DOID:0060809 ) |