Syndromic X-linked intellectual disability due to JARID1C mutation

Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the <i>JARID1C</i> (<i>SMCX</i>) gene encoding a JmjC-domain protein with histone demethylase activity.

High palate

Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).


Total: 0

                      


(per page)
PMID (PMCID)