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中文Arthrogryposis and Ectodermal Dysplasia
Alias:
Arthrogryposis-Ectodermal Dysplasia Syndrome
Stoll-Alembik-Finck Syndrome
Tricho-Oculo-Dermo-Vertebral Syndrome
Trichooculodermovertebral Syndrome
Alves Syndrome
Todv Syndrome
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关节挛缩和外胚层发育不良，又称关节挛缩-外胚层发育不良综合征，与外胚层发育不良和关节挛缩综合征有关，症状包括皮肤干燥。与关节挛缩和外胚层发育不良有关的重要基因是 OTOF (Otoferlin)。附属组织包括皮肤和骨骼肌，相关表型为糖尿病和面部形状异常
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MALACARDS
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