Table 4:

Diagnosis criteria for CHARGE syndrome

Major criteria	Minor criteria
Coloboma	Cranial nerves dysfunction including hearing loss
Choanal atresia and/or cleft lip or palate	Dysphagia (feeding difficulties)
Abnormal external, middle or inner ears, including hypoplastic semicircular canals	Structural brain anomalies
Pathogenic CHD7 variant	Developmental delay/intellectual disabilities/autism
	Hypothalamo-hypophyseal dysfunction (gonadotropin or growth hormone deficiency) and genital anomalies
	Heart or esophagus malformation
	Renal anomalies
	Skeletal/limb anomalies