Whereas the peculiar facial features, intellectual disability, behavioral anomalies, scoliosis, gastroesophageal reflux, short hands and feet, wide based gait, hypotonia, hands contractures during the march and standing are all features of the phenotypic spectrum of this syndromic disorder (Table 1), the recurrent pulmonary infections, thick mucus, bronchiectasis and P. aeruginosa pneumonia, biliary sludge and cholelithiasis are not causally related to USP7 haploinsufficiency. The gene discussed is USP7; the disease is cholelithiasis.