Table 1 Clinical features and mutation of patients with mutation in the CHD7 gene
From: Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient
Sex | Age | Coloboma | Choanal atresia | Cleft lip and/or palate | SCC hypoplasia | Deafness | Feeding difficulties | Structural brain anomalies | Genital hypoplasia | Growth retardation | Heart defect | Kidney anomalies | IUGR | Classfication | Mutation |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
F | 3 d | – | + | – | – | + | + | – | – | – | + | – | – | Atypical CHARGE | CHD7 c.4656dupT |