Table 1. Summary of the main clinical features in unrelated subjects with either isolated ANKRD11 alterations or 16q24.3 microdeletiona.

Clinical featuresb	ANKRD11 mutationc	ANKRD11 deletiond	ANKRD11 intragenic duplication	16q24.3 Microdeletion syndrome
				Previous report	This reporte	Total
Gender	22 M 10 F	5 M 1 F	1 M 1 F	7 M 1 F	7 M 3 F	14 M 4 F
Characteristic facial anomalies	32/32 (100)	6/6 (100)	2/2 (100)	5/8 (62.5)	3/10 (30)	8/18 (44.4)
Macrodontia of upper central incisors	29/32 (90.6)	3/6 (50)	2/2 (100)	4/8 (50)	5/10 (50)	9/18 (50)
Postnatal short stature with height <3rd centile	20/32 (62.5)	5/6 (83.3)	2/2 (100)	2/8 (25)	4/10 (40)	6/18 (33.3)
Mild-to-moderate developmental delay	11/32 (34.4)	5/6 (83.3)	0/2 (0)	7/8 (87.5)	8/10 (80)	15/18 (83.3)
Mild-to-moderate intellectual disability	26/32 (81.3)	1/6 (16.7)	2/2 (100)	3/8 (37.5)	7/10 (70)	10/18 (55.6)
Seizures	7/32 (22)	1/6 (16.7)	0/2 (0)	3/8 (37.5)	2/10 (20)	5/18 (27.8)
CNSf malformation	1/32 (3.1)	0/6 (0)	0/2 (0)	3/8 (37.5)	2/10 (20)	5/18 (27.8)
Hand anomalies	29/32 (90.6)	4/6 (66.7)	2/2 (100)	3/8 (37.5)	2/10 (20)	5/18 (27.8)
Costovertebral anomalies	17/32 (53.1)	0/6 (0)	0/2 (0)	0/8 (37.5)	0/10 (0)	0/18 (0)
Significantly delayed bone age	10/32 (31.3)	2/6 (33.3)	0/2 (0)	2/8 (25)	3/10 (30)	5/18 (27.8)
Cryptorchidism	11/22 (50)	0/5 (0)	0/1 (0)	2/7 (28.6)	3/7 (42.9)	5/14 (35.7)
Thrombocytopenia	0/32 (0)	0/6 (0)	0/2 (0)	2/8 (25)	2/10 (20)	4/18 (22.2)
Severe astigmatism	0/32 (0)	0/6 (0)	0/2 (0)	2/8 (25)	3/10 (30)	5/18 (27.8)
CHDsg	3/32 (9.4)	0/6 (0)	2/2 (100)	2/8 (25)	4/10 (40)	6/18 (33.3)
First-degree relative with KBG	11/32 (34.4)	1/6 (16.7)	2/2 (100)	2/8 (25)	0/11 (0)	2/18 (11.1)

Bold values indicates the clinical features that distinguish 16q24.3 microdeletion syndrome from KBG syndrome.

^aPatient 6 was excluded because ANKRD11 is not involved in the deletion region; patient 10 was excluded as well, being deletion was distal to ANKRD11.

^bAccording to Skjei et al, revisited.

^cReferences: ^{2, 3, 6, 7, 10}.

^dReferences: ^{4, 11, 12, 13, 14}.

^eOnly six out of seven patients were considered as one presented the deletion in mosaic.

^fCentral nervous system.

^gCongenital heart defects.