Main clinical features

BSSOAS is a multisystem disorder characterized by developmental delay, intellectual disability, autism spectrum disorder, muscle weakness (hypotonia), seizures, vision disorders and hearing disorder.



The prevalence of the disorder is yet unknown.



BBSOAS is caused by changes (mutations) in or a deletion of the NR2F1 gene on  chromosome 5q15. Most affected people are the first person in their family to carry the gene change, but it can be inherited from a parent, who has features of BSSOAS as well.