Figure 1
Photographs of patients with a MYT1L aberration. Patients with a 2p25.3 deletion include (a) patient 1, 13 years old; (b) patient 2, 50 years old; (c) patient 3, 13 years old; (d) patient 6, 4 years old; (e) patient 7, 4 years old, and (f) patient 8, 13 years old. Patients with a 2p25.3 duplication leading to loss of function include (g) patient 13, 3 years old; (j) patient 20, adult; (k) patient 21, 10 years old, and (l) patient 22, 6 years old. Patients with a point mutation in MYT1L include (h) patient 14, 12 years old and (i) patient 15, 13 years old. All patients present with mild to moderate intellectual disability and speech delay. Facial dysmorphisms are minor and include a long chin, broad nasal tip, and upslanting palpebral fissures.
