GALNS and mucolipidosis type II: Enzymatic assays for mucolipidosis II/III were also normal and no pathogenic mutations were found in galactosamine-6-sulfate sulfatase (GALNS) in Family I. Additionally, since some of the features of patient II-II-3 were reminiscent of Noonan syndrome, Hennekam syndrome, and Aarskog-Scott syndrome, individual genes involved in these disorders were analyzed in Family II, but no pathogenic mutation was identified.