Table 2 Comparison of the phenotype between our cohort and type 1 Kabuki and CHARGE syndromes.
Feature | Ex38/39 KMT2D MVs | Type 1 Kabuki syndrome | CHARGE syndrome |
|---|---|---|---|
Branchial sinus/neck pits | 7/9 (78%) | Not reported or extremely rare | Not reported or extremely rare |
Hearing loss | 8/9 (89%) | Common | Common |
External ear abnormalities | 6/9 (67%) (small, hypoplastic, or absent) | Common (usually prominent and simple) | Common (usually simple or dysplastic) |
Structural abnormality of eye | 2/9 (22%) | Rare | Common |
Abnormality of lacrimal ducts | 7/9 (78%) | Rare | Rare |
Choanal atresia | 7/9 (78%) | Rare | Common |
Cleft lip/palate | 0 | Common | Common |
Athelia/hypoplastic nipples | 6/9 (67%) | Not reported (prominent breasts are common) | Rare |
Congenital heart disease | 3/9 (33%) | Common | Common |
Renal structural abnormality | 0 | Common | Common |
Seizures | 0 | Common | Common |
Intellectual disability | 0 | Common | Common |
Feeding difficulties | 5/9 (44%) | Common | Common |
Short stature | 5/9 (56%) | Common | Common |
Thyroid abnormality/hypothyroidism | 6/9 (67%) | Rare | Rare |
Abnormality of immune system/recurrent infections | 4/9 (44%) | Common | Common |
