preferred_name: Roifman-Chitayat Syndrome
preferred_name_lc: roifman-chitayat syndrome
label: COMBINED IMMUNODEFICIENCY, FACIAL DYSMORPHISM, OPTIC NERVE ATROPHY, SKELETAL ANOMALIES, AND DEVELOPMENTAL DELAY
label_lc: combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay