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中文Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities (ISDNA)
Alias:
Isdna
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免疫骨骼发育异常伴有神经发育异常，也称为ISDNA，与骨软骨发育不良和囊性肾病有关。与免疫骨骼发育异常伴有神经发育异常有关的重要基因是EXTL3（Exostosin Like Glycosyltransferase 3）。附属组织包括T细胞和肝脏，相关表型为肛门闭锁和红皮病
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MALACARDS
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