SMARCE-1 is a gene which has been implicated in Coffin-Siris syndrome (CSS), a congenital intellectual disability syndrome characterized by varying degrees of learning and developmental differences, organ-system related abnormalities, including heart, brain, kidney anomalies, low-tone, feeding difficulties, and the variable presence of shortened fifth fingers or nails on the fifth finger. Individuals with SMARCE1-related CSS may also have seizures, short stature, or difficulty with growth.
SMARCE1