Case 22, a 6-year-old girl with a de novo ultra-rare LoF variant in BRPF1, presents ID, bilateral foveal hypoplasia, strabismus and ptosis, a phenotype consistent with IDDDFP (#617333: intellectual development disorder with dysmorphic facies and ptosis), recently associated with the BRPF1 heterozygous variants, mainly nonsense or frameshift (Mattioli 2017). The gene discussed is BRPF1; the disease is ptosis.