Clinical features in patients with deletion or mutation of the ZFHX1B gene
| Our series (n=21) | Lurie et al9 (n=1) | Amiel et al5 (n=8) | Yamada et al6 (n=10) | Zweier et al4 (n=4) | Garavelli et al7 (n=1) | Frequency (n=45) | |
|---|---|---|---|---|---|---|---|
| Male/female | 15/6 | M | 3/5 | 7/3 | 4/0 | M | 31/14 |
| Typical face (photograph seen) | 21/21 | 1/1 | 5/5 | 5/5 | 3/3 | 1/1 | 100% |
| Moderate to severe MR | 21 | 1/1 | 8/8 | 10/10 | 4/4 | 1/1 | 100% |
| Seizures/abn EEG | 15/3 | 1/1 | 6/7 | 8/10 | 3/4 | 1/1 | 90% |
| Microcephaly (<3rd centile) | 16/20 | 1/1 | 7/7 | 10/10 | 2/4 | 0/1 | 84% |
| HSCR proven | 13/21 | 1/1 | 7/8 | 4/10 | 2/4 | 1/1 | |
| Abnormal male genitalia | 11/15 | 0/1 | 2/4 | Not stated | 1/4 | 1/1 | |
| Short stature (<3rd centile) | 8/18 | 1/1 | Not stated | Not stated | 3/4 | 0/1 | 50% |
| Congenital heart anomaly | 9/21 | 1/1 AC | 5/8 | 3/10 | 3/4 | 0/1 | 47% |
| Agenesis of corpus callosum | 5/16 | ? | 6/8 | 1/4 | 1/3 | ? | 42% |
| Renal anomaly | 6/16 | 0/1 | 2/4 | Not stated | Not stated | Not stated | 38% |