SON haploinsufficiency can potentially manifest a broad spectrum of clinical features. Based on the individuals currently described in literature, the main clinical features encompass developmental delay, neurological features including structural brain abnormalities, seizures and hypotonia, growth abnormalities, feeding difficulties, musculoskeletal abnormalities, facial dysmorphisms, vision and/or auditory problems, craniosynostosis, and a variety of congenital malformations.
SON