UBE2A-related X-linked intellectual disability is characterized by a distinctive facial phenotype (dense eyebrows and eyelashes, synophrys, hypertelorism, upslanted palpebral fissures, wide mouth, and thin lips), generalized hirsutism, hypoplastic genitalia, short stature, hypotonia, seizures, and severe intellectual disability. Five affected males in two families are described here and compared with the previously reported 17 males in eight families. The new cases are notable for the absence of nail dystrophy, previously considered a defining manifestation, and for the presence of hypogammaglobulinemia and adult-onset ataxia.

中文翻译：

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与UBE2A相关的X链接型智力障碍。

与UBE2A相关的X连锁智力障碍的特征是独特的面部表型（浓密的眉毛和睫毛，滑舌，超精症，睑裂，大嘴和薄嘴唇倾斜），广泛性多毛症，生殖器发育不良，身材矮小，肌张力不足，癫痫发作，和严重的智力障碍。这里介绍了两个家庭中的五名受影响男性，并将其与先前报道的八个家庭中的十七名男性进行了比较。新病例因没有指甲营养不良（以前被认为是明确的表现），以及存在低球蛋白血症和成年共济失调而著名。