Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome (SSMS)

Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome, also known as seizures-scoliosis-macrocephaly syndrome, is related to exostoses, multiple, type ii. An important gene associated with Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome is EXT2 (Exostosin Glycosyltransferase 2). Affiliated tissues include bone and skin, and related phenotypes are seizure and global developmental delay