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中文Charge Syndrome (CHARGES)
Alias:
Charge Association
Hall-Hittner Syndrome
Coloboma-Heart Defects-Atresia Choanae-Retardation of Growth and Development-Genitourinary Problems-Ear Abnormalities Syndrome
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
Charges
Hhs
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染色体异常综合症，也称为染色体关联，与鼻孔闭锁、视网膜后极和脉络膜缺损有关。与染色体异常综合症相关的重要基因是CHD7（染色域螺旋酶DNA结合蛋白7），其相关通路/超级通路包括神经系统发育和哺乳动物ES细胞多能性中的Nanog。附属组织包括心脏和眼睛，相关表型为听力障碍和全球发育延迟。
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Basic Information
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Reference
MALACARDS
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MGI
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