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ENLowry-Wood Syndrome (LWS)
Alias:
Epiphyseal Dysplasia-Microcephaly-Nystagmus Syndrome
Epiphyseal Dysplasia, Multiple, with Microcephaly and Retinal Dystrophy
Dysplasia, Epiphyseal, Microcephaly, Nystagmus
Lws
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Lowry-Wood Syndrome, also known as epiphyseal dysplasia-microcephaly-nystagmus syndrome, is related to roifman syndrome and microcephalic osteodysplastic primordial dwarfism, type i. An important gene associated with Lowry-Wood Syndrome is RNU4ATAC (RNA, U4atac Small Nuclear). Affiliated tissues include bone, and related phenotypes are microcephaly and short stature
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