Figure 2. Clinical features of patients carrying SEL1L and HRD1 variants.

(A, C, E) Photos of patient 1 (A), patient 2 (C), and patient 6 (E) showing clumsy and wide gait, with need of external supports in C and E. (B, D, and F) Photos of the patients showing dysmorphisms (red arrows). (B) Patient 1 at 13 years (left, middle) and 11 years (right) of age, showing overbite (left, middle), downslanting palpebral fissures, and pectus excavatum (right). (D) Patients 2–5 at ages of 17 (patient 2), 15 (patient 3), 11 (patient 4), and 5 years (patient 5), showing overbite (patients 2 and 3) and downslanting palpebral fissures (patient 2–5). (F) Patient 6 at 16 years old, showing hypertelorism and flat nasal bridge (right).