Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060809 )
Relationships
is a type of
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Genes Involved
Zebrafish Models