Individuals with GNAI1-related neurodevelopmental disorder can manifest a broad spectrum of neurodevelopmental disorders and associated phenotypic abnormalities with a variable degree of severity.
Mutations in the GNAI1 gene can lead to a multisystem disorder with a predominate effect on intellectual development.
The prevalence of phenotypic features is listed below as summarized by Muir et al., 2021. The study included 24 patients, but the complete data were not available for all. All described phenotypic features are common as they have been observed in more than 50% of affected individuals.
Muir AM et al. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med. 2021;23(5):881-887.