Term Name: syndromic X-linked intellectual disability Claes-Jensen type
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 )

Relationships
is a type of: syndromic X-linked intellectual disability X-linked recessive disease