Roifman-Chitayat Syndrome (ROCHIS)

Roifman-Chitayat Syndrome, also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay, is related to combined immunodeficiency and immune deficiency disease, and has symptoms including myoclonic seizures An important gene associated with Roifman-Chitayat Syndrome is KNSTRN (Kinetochore Localized Astrin (SPAG5) Binding Protein). Affiliated tissues include bone and t cells, and related phenotypes are intellectual disability and ataxia