Table 1.
Frequency of clinical features in patients with mutations in WAC
| DeSanto et al., 2015 | Lugtenberg et al., 2016 | Current report | |
|---|---|---|---|
| Normal prenatal period | 6/6 | NR | + |
| Hearing impairment | 6/6 | NR | + |
| Language delay | 6/6 | NR | + |
| Learning difficulties | 6/6 | 8/10 | + |
| Motor delay | 6/6 | 9/10 | + |
| Weight in normal percentile | 6/6 | 4/10 | + |
| Height in normal percentile | 6/6 | 6/10 | + |
| Respiratory infections | 0/6 | 7/10 | + |
| Behavioral abnormalities | 6/6 | 9/10 | + |
| Anxiety | 3/6 | 3/10 | + |
| ADHD | 3/6 | 4/10 | + |
| Autistic features | 1/6 | 4/10 | - |
| Sleep disturbances | 1/6 | 6/10 | - |
| Feeding difficulties | 3/6 | 4/10 | + |
| Short fingers | NR | 3/10 | + |
| Hypotonia | 6/6 | 6/10 | + |
| Dysmorphic facial features | 6/6 | 10/10 | + |
| Prominent forehead | 6/6 | 10/10 | + |
| Posteriorly rotated ears | 3/6 | 10/10 | + |
| Low-set ears | 3/6 | NR | + |
| Preauricular pit | 1/6 | NR | - |
| Low nasal bridge | 6/6 | NR | + |
| Bulbous nasal tip | 5/6 | NR | + |
| Malar hypoplasia | 1/6 | NR | + |
| Synophrys | 3/6 | 10/10 | + |
| Visual impairment | 2/6 | 3/10 | - |
| Deep-set eyes | 2/6 | 10/10 | + |
| Hypertelorism | 2/6 | 10/10 | + |
| Macroglossia | NR | 10/10 | + |
| Thin upper lip | 2/6 | NR | + |
| Flat philtrum | 1/6 | NR | + |
| Hirsutism | 2/6 | NR | + |
| Hypogammaglobulinemia | NR | NR | + |
ADHD, attention deficit hyperactivity disorder; NR, not reported; +, present; –, absent.