PHIP and Global developmental delay: In our full cohort, 25/45 patients (6 in subgroup A, 11 in subgroup B, 2 in subgroup C and 6 in subgroup R) had a PHIP deletion, displayed no to severe developmental delay, and had the following features in common with the three patients with loss-of-function variants: dysplastic ears (10/16), hypotonia (15/19) and strabism (4/12).