Long‐term clinical course of Heyn‐Sproul‐Jackson syndrome.

1 TABLE Comparison with the present patient and reported four patients and Tatton-Brown-Rahman syndrome. In conclusion, HESJAS is included in the differential diagnosis of patients with DD/ID, marked microcephaly, and distinctive face. Heyn-Sproul-Jackson syndrome (MIM#618724: HESJAS) is an autosomal dominant disorder that is characterized by growth retardation, microcephaly, developmental disabilities, and intellectual disabilities (DD/ID).[1] HESJAS is caused by gain-of-function (GoF) variants of the I DNMT3A i , whereas Tatton-Brown-Rahman syndrome (MIM#615879: TBRS) caused by loss-of-function variants of the I DNMT3A i presents a counterpart phenotype characterized by overgrowth, distinctive facial dysmorphism and DD/ID (Table 1).[2] So far, only four patients have been reported, and clinical information is limited to the childhood period.[[1], [3]] Here, we report an adult patient of HESJAS. [Extracted from the article]