inborn error of immunity combined immunodeficiency with faciooculoskeletal anomalies https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6747 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/roifman_chitayat_syndrome MEDGEN:442377 GARD:0017139 Roifman-Chitayat syndrome Roifman-Chitayat syndrome, digenic MESH:C567641 UMLS:C2750068 Orphanet:221139 Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). OMIM:613328 MONDO:0013226 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome combined immunodeficiency syndrome