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ENSpondylo-Megaepiphyseal-Metaphyseal Dysplasia (SMMD)
Alias:
Smmd
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Spondylo-Megaepiphyseal-Metaphyseal Dysplasia, also known as smmd, is related to metaphyseal dysplasia and cleidocranial dysplasia 1. An important gene associated with Spondylo-Megaepiphyseal-Metaphyseal Dysplasia is NKX3-2 (NK3 Homeobox 2). Affiliated tissues include bone, and related phenotypes are short neck and disproportionate short-trunk short stature
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MALACARDS
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