Table 1. Symptoms of the patient compared with major and minor diagnostic criteria in CHARGE patients⁸ .

Diagnostic criteria	Symptoms of the patient	Frequency in CHARGE patients⁸
Major
Ocular coloboma	−	80–90%
Choanal atresia or stenosis	+	50–60%
Cranial nerve dysfunction	Unclear (VIII, IX/X)	Frequent (VIII) or 70–90% (IX/X)
Characteristic CHARGE syndrome ear	+ (Characteristic outer and inner ears and deafness)	80–100%

Minor
Genital hypoplasia due to congenital hypogonadotropic hypogonadism	+ (Micropenis, cryptorchidism)	50–60% (male; micropenis, cryptorchidism)
Developmental delay	−	⩽100%
Cardiovascular malformations	+	75–85%
Growth deficiency	−	70–80%
Orofacial cleft	+	15–20%
Tracheoesophageal fistula	−	15–20%
Distinctive facial feature	−	70–80%

Table 1. Symptoms of the patient compared with major and minor diagnostic criteria in CHARGE patients8 .