Table 1

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
Typical face (photograph seen)21/211/15/55/53/31/1100%
Moderate to severe MR211/18/810/104/41/1100%
Seizures/abn EEG15/31/16/78/103/41/190%
Microcephaly (<3rd centile)16/201/17/710/102/40/184%
HSCR proven13/211/17/84/102/41/1
Abnormal male genitalia11/150/12/4Not stated1/41/1
Short stature (<3rd centile)8/181/1Not statedNot stated3/40/150%
Congenital heart anomaly9/211/1
Agenesis of corpus callosum5/16?6/81/41/3?42%
Renal anomaly6/160/12/4Not statedNot statedNot stated38%