Neurofacioskeletal Syndrome with or Without Renal Agenesis (NFSRA)

Neurofacioskeletal Syndrome with or Without Renal Agenesis, is also known as neurodevelopmental disorder with corpus callosum agenesis, craniofacial dysmorphism, and skeletal anomalies, with or without renal agenesis. An important gene associated with Neurofacioskeletal Syndrome with or Without Renal Agenesis is HS2ST1 (Heparan Sulfate 2-O-Sulfotransferase 1). Related phenotypes are intellectual disability and global developmental delay