These patients show some overlap with CSS individuals (brain midline abnormalities, severe ID, congenital heart defects, kidney abnormalities, and feeding difficulties) but lack other features that are typical for SMARCB1-CSS (impaired growth, microcephaly, fifth finger anomalies, scoliosis, and epilepsy) (Table 2). Here, SMARCB1 is linked to Coffin-Siris syndrome.