Simpson-Golabi-Behmel Syndrome, Type 2 (SGBS2)

Simpson-Golabi-Behmel Syndrome, Type 2, also known as simpson-golabi-behmel syndrome type 2, is related to multiple congenital anomalies-hypotonia-seizures syndrome 2 and neurodevelopmental disorder with epilepsy and hemochromatosis. An important gene associated with Simpson-Golabi-Behmel Syndrome, Type 2 is OFD1 (OFD1 Centriole And Centriolar Satellite Protein), and among its related pathways/superpathways are EML4 and NUDC in mitotic spindle formation and Organelle biogenesis and maintenance. Affiliated tissues include kidney, and related phenotypes are intellectual disability, severe and short finger