This website provides information on patients with mutations in the NFIA gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the NFIA gene is a multisystem disorder characterized by global developmental delay, brain malformations with or without urinary tract defects. Brain malformations include hypoplastic or absent corpus callosum, hydrocephalus or ventriculomegaly, a tethered spinal cord, Chiari type I malformation, and seizures.
Not all individuals with a mutation in the NFIA gene 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 NFIA gene.
Himanshu Goel, MD, Hunter New England Local Health District, Waratah, Australia, email@example.com