Figure 1.

Phenotypic Characteristics of Each Individual with CLIFAHDD Syndrome

Four individuals affected by CLIFAHDD syndrome; all individuals shown have NALCN mutations. Note the short palpebral fissures, flattened nasal root and bridge, large nares, long philtrum, pursed lips, H-shaped dimpling of the chin, and deep nasolabial folds (A, B, C₁, D). Camptodactyly of the digits of the hands and ulnar deviation of the wrist (A, B, C, D₁, D₂) or clubfoot (C₃) is present in each affected person. Case identifiers for the individuals shown in this figure correspond to those in Table 1, where there is a detailed description of the phenotype of each affected individual. Figure S1 provides a pedigree of each CLIFAHDD-syndrome-affected family.