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中文Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 (EEC1)
Alias:
Eec Syndrome
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 1
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/palate Syndrome
Rudiger Syndrome 1
Eec Syndrome 1
Eec Syndrome-1
Eec1
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
Ectrodactyly-Cleft Lip-Palate Syndrome
Walker-Clodius Syndrome
Eec
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先天性缺指-缺牙-裂唇/腭综合征1，也称为EEC综合征，与唇裂和唇裂/腭裂有关，症状包括畏光。与先天性缺指-缺牙-裂唇/腭综合征1相关的基因是TP63（肿瘤蛋白P63），其相关通路/超级通路包括mTOR信号通路和头颈鳞状细胞癌。相关组织包括皮肤和眼睛，相关表型包括龋齿和浓眉。
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