X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

Table 4 Summary of clinical findings of patients with the ZMYM3 mutation

Clinical trait	Patient III-1	Patient III-2	Patient III-3
Age	15.5 y	8.8 y	7.3y
Weight at birth	2530 g	2460 g	3590 g
Head circumference	55.5 cm, −1 SD	49.6 cm, −3 SD	49.5 cm, −2.7 SD
Hypospadia	+	+	-
Horseshoe kidney	-	+	-
Enuresis nocturna	+	+	rarely
Large cupped formed ear lobes	+	+	+
ADHD	+	+	ND
Arcus aortae dexter	-	+	-
Bicuspid aortic valve	+	+	-
Sleep disorder	+	+	+
Intellectual disability	+/M	+/M	+/M

M→Moderate, +→clinical trait present, -→clinical trait absent, SD→standard deviation.

ISSN: 1750-1172