SMARCE1

Clinical Characteristics

Main features:
•    Learning and developmental delays
•    Hypotonia
•    Feeding difficulties/feeding tube use
•    Short stature
•    Seizures
•    Brain anomalies
•    Congenital heart disease
•    Sparse scalp hair
•    Fifth digit/nail hypo/aplasia
•    Cleft or high palate
•    Vision abnormalities