Three deletions among 4 probands were classified as pathogenic: an HDAC8 deletion in pedigree 13 with syndromic sporadic ptosis, whose phenotype was consistent with HDAC8-associated conditions37; a deletion including GCH1 in syndromic familial ptosis pedigree ENG_BS, which explained their ptosis and DOPA-related dystonia38; and a chr10q26 deletion in syndromic sporadic DRS pedigrees 233 and 131, which we reported recently (https://doi.org/10.1101/2023.12.22.23300468). The gene discussed is GCH1; the disease is ptosis.