Fig. 3. Clinical photographs showing facial features of affected individuals with variants in RNU4-2.

All individuals shown have the n.64_65insT variant, except for individual 44 in o (n.68_69insA), individual 45 in p (n.64_65insG) and individual 48 in q (n.76C>T). a, Individual 1 at 12 years old. b, Individual 4 at 9 years old. c, Individual 7 at 13 years old. d, Individual 15 at 8 years old. e, Individual 21 at 3.5 years old. f, Individual 22 at 8 years old. g, Individual 23 at 13 years old. h, Individual 28 at 5 years old (left) and 9 years old (right). i, Individual 32 at 3 years old (left) and 12 years old (right). j, Individual 36 at 11 months old (left) and 8 years old (right). k, Individual 37 at 22 months old (left) and 16 years old (right). l, Individual 38 at 2.5 years old (left) and 10 years old (right). m, Individual 39 at 2 years old (left) and 12 years old (right). n, Individual 43 at 8 years old (left) and 12 years old (right). o, Individual 44 at 6 years old (left) and 19 years old (right). p, Individual 45 at 6 years old (left and centre) and 27 years old (right). q, Individual 48 at 22 months old.