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ENRoifman Syndrome (RFMN)
Alias:
Spondyloepiphyseal Dysplasia-Retinal Dystrophy-Immunodeficiency Syndrome
Spondyloepiphyseal Dysplasia, Retinal Dystrophy, and Antibody Deficiency
Rfmn
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Roifman Syndrome, also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome, is related to lowry-wood syndrome and isolated growth hormone deficiency, type ia. An important gene associated with Roifman Syndrome is RNU4ATAC (RNA, U4atac Small Nuclear). Affiliated tissues include bone and heart, and related phenotypes are hypertelorism and microcephaly
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