Neurodevelopmental Disorder with Epilepsy and Hemochromatosis (NEDEPH)

Neurodevelopmental Disorder with Epilepsy and Hemochromatosis, also known as ferro-cerebro-cutaneous syndrome, is related to multiple congenital anomalies-hypotonia-seizures syndrome 2 and multiple congenital anomalies-neurodevelopmental syndrome, x-linked. An important gene associated with Neurodevelopmental Disorder with Epilepsy and Hemochromatosis is PIGA (Phosphatidylinositol Glycan Anchor Biosynthesis Class A). Affiliated tissues include liver and skin, and related phenotypes are seizure and global developmental delay