syndromic X-linked intellectual disability Claes-Jensen type

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

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.

Signs and symptoms

• Decreased body weight
• Large hands
• Short foot
• Hyperactivity
• Global developmental delay
• Pectus excavatum
• Macrotia
• Recurrent upper respiratory tract infections
• Furrowed tongue
• Motor delay

Also known as: 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