This study reports on 14 individuals with Fragile X syndrome from 3 Congolese Families. The majority (8/14) were males, with an average age of 18.4 (±11.1 [14-38]) years old. Typical dysmorphic characteristics of Fragile-X syndrome including elongated face, large and prominent ears were found in both males and females with the full mutation. Macroorchidism was found in all post-pubertal boys. The cognitive ability in our cohort varies widely ranging from mild (IQ 50-70) to moderate (IQ 35-49) intellectual disability (Average IQ of 60). All our female patients have ID.

中文翻译：

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刚果民主共和国的脆性 X 综合征：来自三个家庭的 14 名受试者的畸形、认知和行为发现。

本研究报告了来自 3 个刚果家庭的 14 名脆性 X 综合征患者。大多数 (8/14) 是男性，平均年龄为 18.4 (±11.1 [14-38]) 岁。在完全突变的男性和女性中都发现了脆性X综合征的典型畸形特征，包括拉长的脸、大而突出的耳朵。所有青春期后男孩都发现了大睾丸发育。我们队列中的认知能力差异很大，从轻度（智商 50-70）到中度（智商 35-49）智力障碍（平均智商为 60）。我们所有的女性患者都有身份证。