A novel c.2TÂ >Â C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability

► We describe a large family caused by the novel mutation c.2T > C in the KDM5C gene. ► We give the careful description of 5 affected females with the KDM5C gene mutation. ► Affected females had facial dysmorphism, developmental problems and short stature. ► We find completely skewed inactivation pattern of mutation-carrying X-chromosome.