A rare genetic immuno-osseous dysplasia disorder with characteristics of pre and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyse
syndrome de Roifman
SNOMEDCT-BE (epiphyseal dysplasia, epiphyse / 773404000
SNOMEDCT-BE (disorder) / 773404000