Figure 1.

Photos of the patients diagnosed in this study. (a) Rubinstein–Taybi syndrome 2 (MIM 613684) patient. (b) Spastic Paraplegia 50 (MIM 612936) patient. (c) Wiedemann–Steiner syndrome (MIM 605130) patient. (d) Cornelia de Lange syndrome 2 (MIM 300590) patient. (e) Glass Syndrome (MIM 612313) patient. (f) Bosch–Boonstra–Schaaf optic atrophy syndrome (MIM615722) patient. (g) Cerebral creatine deficiency syndrome 1 (MIM 300352) patient. (h) Mental retardation, autosomal dominant 31 (MIM 616158) patient