Table 1.
Clinical features of patients with mosaic KMT2D mutations.
| Clinical Features | GM13-3816 | KB450 | KB369 | Prevalence of KS Features |
|---|---|---|---|---|
| Gender | F | F | F | |
| Age (years) | 6.1 | 8 | 17 | |
| Facial anomalies | + | + | + | 87 5 |
| Elongated palpebral fissures | + | + | + | 95 18 |
| Sparse eyebrows | + | + | + | 82 18 |
| Palpebral ptosis | + | − | + | 52 18 |
| Broad nasal tip | − | + | + | 69 18 |
| Thin upper and full lower lip | + | + | + | 71 18 |
| Large dysmorhic ears | + | + | − | 90 18 |
| Short stature | − | − | + | 70 5 |
| Feeding difficulties | − | − | − | 82 5 |
| Cleft palate | − | − | − | 37 5 |
| Cardiac defects | − | + | − | 46 5 |
| Urogenital anomalies | − | − | − | 42 5 |
| IQ Impairment | Borderline | Borderline | Moderate | 99 5 |
| Compromised adaptive functioning | Mild | On average | Mild | 99 5 |
| Genotype | c.15061C=/>T, p.R5021 * | c.13450C=/>T, p.R4484 * | c.3596_3597=/delTC, p.L1199Hfs *7 | |
| Leukocytes mosaicism (%) | 32 | 68 | 40 |