TNPO2 variants are associated with varied dysmorphic features in individuals
(A) Proband 4 at age 3 years with short philtrum, broad nasal bridge, large fleshy ears, and coarse facial features.
(B) Proband 8 at age 8 years with strabismus, high nasal bridge, eversion of the lower lip, and clinodactyly.
(C) Proband 11 at age 9 years has no clear dysmorphism.
(D) Proband 13 at age 11 years with deep set eyes and large cupped ears.