syndromic X-linked intellectual disability Claes-Jensen type

Term ID

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

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. (2)

References

• ICD10CM:Q87.8
• OMIM:300534
• ORDO:85279

Ontology

Human Disease   ( DOID:0060809 )