Table 1. Phenotypic details of four affected individuals (IV-3, IV-4, IV-10 and V-1 of Figure 1): HC, weight and height at different time points from birth to age 7 years.
| Patient | HC -birth (cm) | HC-1Year (cm) | HC-3Years (cm) | HC-7Years (cm) | Weight-birth (kg) | Weight-1Year (kg) | Weight-3Years (kg) | Weight-7Years (kg) | Height-1Year (cm) | Height-3Years (cm) | Height-7Years (cm) | Vineland adequacy at 3 Years |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IV-3 | 30.5 | 39.5 | 44.0 | 45.5 | 2.765 | 5.1 | 10.5 | 14.5 | 65 | 87 | 105 | 5 Months |
| IV-4 | 32.0 | 38.0 | 44.2 | 45.0 | 3.280 | 5.9 | ND | 19.0 | 68 | ND | 117 | 7 Months |
| IV-10 | 29.0 | 39.5 | 42.5 | ND | 2.260 | 6.4 | 10.3 | ND | 68 | 87 | ND | 9 Months |
| V-1 | 31.5 | 42.0 | 43.6 | ND | 2.700 | ND | 12.0 | ND | 75 | 87 | ND | 5 Months |
All four affected individuals had undergone the Vineland adaptive behavior scale evaluation at age 3 years, demonstrating developmental capabilities appropriate for ages 5–9 months.