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中文Neurodevelopmental Disorder with Microcephaly and Gray Sclerae (NEDMIGS)
Alias:
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Nedmigs
Mental Retardation, Autosomal Recessive 55, Formerly
Mrt55, Formerly
Mrt55
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神经发育障碍伴小头症和灰色巩膜，也称为严重生长缺陷-斜视-广泛的皮肤黑素细胞增多-智力障碍综合征，与丹代尔-沃克综合征和水脑病有关。与神经发育障碍伴小头症和灰色巩膜有关的重要基因是PUS3（假尿嘧啶合成酶3）。附属组织包括皮肤和大脑，相关表型为癫痫和粗糙的面部特征
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MALACARDS
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