TABLE 1.
Clinical description of patients IV‐1 and IV‐2
| Clinical phenotypes | IV‐1 | IV‐2 |
|---|---|---|
| Sex | Male | Female |
| Origin | Saudi | Saudi |
| Consanguinity | + | + |
| Pregnancy event | Uneventful full term | Uneventful full term |
| Age at last exam | 14 | 11 |
| Genetic results | c.679‐1G>A in EMC10 gene | c.679‐1G>A in EMC10 gene |
| Global developmental delay | + | + |
| Speech delay | + | + |
| Mild‐Intellectual disability | + | + |
| IQ score | 69 | 76 |
| Anxiety | + | + |
| Poor sleep | + | + |
| Repetitive tics | + | + |
| Major deficiency in memory and mathematical abilities | + | + |
| Head circumference | 56 cm (50th percentile) | 53 cm (50th percentile) |
| Height | 163 cm (50th percentile) | 144 cm (50th‐75th percentile) |
| Weight | 41.2 kg (10th percentile) | 34.1 kg (25th‐50th percentile) |
| Dysmorphic features | + | + |
| MRI brain | Normal | Normal |
| Skeletal survey | Normal | Normal |
| Hearing test | Normal | Normal |
| Eye exam | Normal | Normal |
| Echocardiogram | Normal | Normal |