Figure 2.

Clinical Photographs of Individuals with De Novo LGD Mutations in POGZ

Individuals harboring POGZ mutations show an overlap in facial features, including brachycephaly (not shown) and a broad forehead, a high nasal bridge, hypertelorism, and a thin upper lip in some. However, the facial phenotype is not very specific or recognizable.

(A and B) Individual UMCN1 at the ages of 1 year (A) and 3 years (B).

(C) Individual UMCN2 at the age of 9 years.

(D and E) Individual UMCN3 at the ages of 4 years (D) and 8 years (E).

(F and G) Individual UMCN4 at the ages of 4.5 years (F) and 5 years, 2 months (G).

(H and I) Individual UMCN6 at the ages of 6 months (H) and 11 years (I).

(J) Individual UMCN7 at the age of 4 years.

(K and L) Individual UMCN8 as a child (K) and at the age of 26 years (L).

(M) Individual UMCN9 at the age of 8 years.

(N and O) Individual UMCN10 at the ages of 4 years (N) and 11 years (O).

(P) Individual EE4 at the age of 12 years.

(Q and R) Individual FR3 at the ages of 7 months (Q) and 6 years (R).

(S) Individual FR4 at the age of 6 years.

(T) Individual EE2 at the age of 14 years.

(U) Individual EE6 at the age of 7 years.

(V) Individual EE7 at the age of 7 years.