Table 2.
Additional CHARGE features present in IGD patients with CHD7 RSVs that were pathogenic in zebrafish model
| Pedigree no. | Diagnosis | Mutation in CHD7 | Second hits | C | H | A | RG | RD | G | HL | E | CLP | FA | Verloes criteria for full CHARGE |
| 11 | KS | P940L | None | — | — | — | — | — | + | + | — | — | — | No |
| 18 | KS | F1362L | None | — | — | — | NA | + | + | + | — | — | — | No |
A, atresia of choanae; C, coloboma; CLP, cleft lip/plate; E, external ear defect; FA, facial asymmetry; G, genital defects; H, heart defects; HL, hearing loss; RG, retarded growth; RD, retarded development.
*
Probands with additional CHARGE features but not fulfilling Verloes CHARGE syndrome criteria.