Table 1

Clinical and molecular data of Opitz syndrome patients with a known MID1 mutation

Main features	Our series familial (F) and sporadic (S) cases
	Family 1		Family 2				Family 6						Total
	(F)		(F)		Patient 3	Patient 4	(F)		Patient 9	Total	Previous studies¹¹		%
	proband	brother	proband	brother	(F)	(F)	proband	brother	(S)	/9	/28	%	/37
*patients presenting with swallowing difficulties but no anatomical defects
†vermis hypoplasia
‡inferior vermis agenesis
§vermis and posterior corpus callosum hypoplasia
Hypertelorism or telecantus	+	+	+	+	+	+	+	+	+	9	28	100	100
Hypospadias	+	–	+	+	+	+	+	+	+	8	25	89	89
Urogenital abnormalities		+				+			+
Oesophagolaryngotracheal anomalies	+	+*	+	+	+	+	+*	+*	+*	9	21	75	78
Cleft lip or palate	–	–	+	+	–	–	+	–	–	3	15	54	49
Ear abnormalities	+	+	+	+	–	+	+	?	+	7	11	39	48
Anteverted nostrils	–	–	+	–	+	+	+	+	–	5	11	39	43
Heart defects	–	–	–	–	+	–	–	+	–	2	9	32	30
Anal abnormalities	–	–	–	–	–	+	+	–	–	2	8	28	27
Brain anomalies	–	–	+†	?	–	+‡	+†	+§	?	4	6	21	27
Developmental delay	–	–	+	+	+	–	+	+	–	5	14	50	51
MID1 mutation	G452S		R277X		a.1285+2 delGAGT	1447–1448 insAACA	R495X		403–411 del