Table 1.
Clinical features of affected individuals
| Family A, Individual III-3 | Family A, Individual III-4 | Family B, Individual III-1 | |
|---|---|---|---|
| Age at last exam | 3 years–2 months | 2 years–11 months | 3 years–3 months |
| Gender | F | M | M |
| Gestational age | 40 weeks + 3 days | 34 weeks | 36 weeks |
| Birth weight (Z score) | 2380 g (−2.56) | 1340 (−2.2) | 1740 g (−2.81) |
| Global developmental delay | + | + | + |
| DQ | 72 | 57 | 23 |
| Age at walking | 24 months | 27 months | Non-ambulatory |
| Speech delay | + | + | + |
| Height (Z-score) | 88.5 cm (−1.74) | 86 cm (−2.39) | 90 cm (−1.89) |
| Weight (Z- score) | 13.2 kg (−0.65) | 12.5 kg (−1.23) | 12 kg (−2.03) |
| Head circumference (Z-score) | 48.2 cm (−0.3) | 47 cm (−1.6) | 46.8 (−1.7) |
| Dysmorphic features | Midface retrusion | Micrognathia | Short philtrum |
| Hypotonia | + | + | + (axial hypotonia, increased peripheral tone) |
| Atopic dermatitis | + | + | NA |
| Cleft palate | + | + | + |
| Myopia | + | + | + |
| Proliferative retinopathy | + | + | + |
| Strabismus | − | + | − |
| Hearing loss | Mild to moderate | Mild to moderate | − |
| Brain MRI | Cavum septum pellucidum, mild ventriculomegaly | Ventriculomegaly | Ventriculomegaly, partial agenesis corpus callosum, vermian hypoplasia |
| Echocardiography | NA | Normal | Normal |
| Sleep apnea | + | NA | + |
DQ developmental quotient, F– female, M male, MRI magnetic resonance imaging, NA not available