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