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中文Rett Syndrome, Congenital Variant (RTTCV)
Alias:
Rett Syndrome Congenital Variant
Rttcv
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雷特综合症，先天变异型，又称雷特综合症先天变异型，与 Noonan 综合症 1 有关，症状包括舞蹈病、便秘和肌肉痉挛。与雷特综合症，先天变异型有关的重要基因是 FOXG1（叉头盒 G1）。相关组织包括舌和眼，相关表型为全球发育延迟和智力障碍，严重
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