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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
  1. SCC semicircular canal