This website provides information on patients with mutations in the SLC45A1 gene, including clinical data, molecular data, management and research options.

SLC45A1-related disorder is a multisystemic disorder characterized by intellectual disability, epilepsy, variable neuropsychiatric features and facial dysmorphism. Global developmental delay, renal anomalies, congenital heart disease, ataxia, squint and Dandy-Walker malformation were also observed but not all individuals with SLC45A1-related disorder 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 SLC45A1 gene.

Myriam Srour, MD CM, FRCP (C), PhD, Division of Pediatric Neurology, Departments of Pediatrics and Neurology & Neurosurgery, McGill University, Montreal, QC, Canada, myriam.srour@mail.mcgill.ca

Sarah Alsubhi, MD, Division of Pediatric Neurology, Departments of Pediatrics and Neurology & Neurosurgery, McGill University, Montreal, QC, Canada, Sarah.alsubhi@mail.mcgill.ca