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syndromic X-linked intellectual disability Claes-Jensen type
Summary
- Synonym
-
- 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
- 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.
- Super Class
- X-linked recessive disease syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0060809
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
