Table 1 The proportion of previously reported clinical manifestations

High arched eyebrow^a

13/13

100

Developmental delay

32/32

100

Coarse face^a

21/22

95.4

Wide nasal tip^a

19/20

95.0

Full/everted lower lip^a

16/17

94.1

Bushy eyebrow^a

12/14

85.7

Dandy–Walker syndrome

17/21

81.0

Smooth philtrum

8/10

80.0

Ear anomalies

14/18

77.8

Macrostomia

6/9

66.7

Recessed fourth foot

5/13

38.5

Cardiac defect

5/14

35.7