Table 1.

Background of CHARGE syndrome participants.

Case	1	2	3	4	5	6	7	8	9	10
Gender	M	M	F	M	M	M	M	M	F	F
Age at structural MRI (years)	16.7	21.4	15.3	23.3, 26.4	14.4	13.5	7.1	7.9,9.5
Age at DTI tractography (years)		21.4		23.3, 26.4	14.4	13.5		9.5	30.2	16.4
Major criteria
Coloboma		+	+	+	+		+		+	+
Choanal atresia		+	+	+		+	+		+
Cranical nerve (VII, VIII) dysfunction	+	+	+	+	+	+	+	+		+
Characteristic ear abnormalities	+			+	+	+	+	+	+	+
Minor criteria
Genital hypoplasia		+	+	+	+			+	+
Developmental delay	+	+	+	+	+	+	+	+	+	+
Cardiovascular malformation	+	+	+	+		+		+	+	+
Growth deficiency	+	+	+	+	+	+	+	+		+
Orofacial cleft	+			+			+			+
Tracheoesophageal fistula			+							+
Characteristic face	+	+	+	+	+	+	+	+	+	+

Abbreviation; MRI, Magnetic resonance imaging; DTI, Diffusion tensor imaging. Diagnostic criteria interpretation; Definite CHARGE: 4 major or 3 major and 3 minor criteria, Probable/possible CHARGE: 1 or 2 major and several minor criteria (Blake et al., 1998)(Lalani et al., 1993–2018).