A de novo ∼250-kb deletion in 13q12.11, encompassing only two genes, PSPC1 (paraspeckle component 1; MIM 612408) and ZMYM5 (zinc finger, MYM-type 5), was identified in pt 51 with remarkably delayed psychomotor development, muscle hypotonia, unilateral microphtalmia with ptosis, congenital eye malformation, and facial dysmorphic features (Fig. 1a, d). Here, PSPC1 is linked to ptosis.