Fig. 1.

Craniofacial features of patients with biallelic KIF7 or de novo SHH variants. a–d Deceased female patient 1 at 2 years and 2 months a–c and in adulthood d whose mother was shown to be a heterozygous carrier of a KIF7 variant; e–h male patient 2 with pathogenic KIF7 biallelic Swiss founder variants at 3 months (e), 3 years (f) and 33 years (g, h) of age; i–l the previously reported male patient (case 4 of Putoux et al. 2012) with the same biallelic variants as patient 2 at the age of 3 months (i, j) and 26 years (k, l); m, n female patient 3 with KIF7 homozygous Swiss splice site pathogenic variants at 5 months (m) and 21 years of age (n); o–p male patient 13 with a de novo SHH variant at 29 years. Note the shared facial features of broad and high forehead, hypertelorism, flat nasal root, thin upper and everted lower lips, and retracted but relatively large chin. Patient 3 (m, n) shows the mildest dysmorphism corresponding with the milder intellectual disability, likely due to the leakiness of the splice site variant