RABGAP1-related neurodevelopmental disorder is a rare disorder, and the number of reported individuals remains limited. Continued identification and characterization of individuals with biallelic RABGAP1variants will be important to further define the clinical spectrum and emerging genotype–phenotype correlations.
Clinicians and researchers who identify individuals with suspected or confirmed RABGAP1-related neurodevelopmental disorder are encouraged to contact the moderators of this website. Sharing clinical and molecular information, where appropriate and with relevant consent, may help improve understanding of the disorder and its natural history.
RABGAP1