Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS)

Seizures, Cortical Blindness, and Microcephaly Syndrome, also known as progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, is related to immune deficiency disease and ceroid lipofuscinosis, neuronal, 5. An important gene associated with Seizures, Cortical Blindness, and Microcephaly Syndrome is DIAPH1 (Diaphanous Related Formin 1). Affiliated tissues include eye and t cells, and related phenotypes are seizure and global developmental delay