RABGAP1

This website provides information on patients with mutations in the RABGAP1gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the RABGAP1gene is a rare multisystem disorder characterized by global developmental delay/intellectual disability, microcephaly, bilateral sensorineural hearing loss, seizures, characteristic facial features, and abnormalities on brain imaging including delayed myelination, reduced white matter volume, ventriculomegaly and thinning of the corpus callosum.

Additional neurological and developmental features may include hypotonia, hypertonia or spasticity, hyperreflexia, and behavioral or neurodevelopmental features. The disorder is caused by biallelic loss-of-function variants in RABGAP1and follows an autosomal recessive inheritance pattern.

Not all individuals with a mutation in the RABGAP1gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the RABGAP1gene.

Rachel Oh, MD, University of Alberta, Edmonton, Canada, yoh@qmed.ca