This website provides information on patients with mutations in the VPS16gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the VPS16gene is a multisystem disorder characterized by
• Coarse facial features
• Short stature and growth restriction
• Developmental delay
• Severe congenital neutropenia
• Peripheral neuropathy
• Skeletal dysplasia
• Splenomegaly and chronic liver disease
Not all individuals with a mutation in the VPS16gene 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 VPS16gene.
Yılmaz Yıldız, MD, PhD, Hacettepe University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism, Ankara, Turkey, yilmaz.yildiz@hacettepe.edu.tr