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中文Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features (CPRF)
Alias:
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cprf
Palatal Anomalies-Multiple Diastemata-Facial Dysmorphism-Developmental Delay Syndrome
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唇裂、精神运动迟滞和独特的面部特征，也被称为腭部异常——牙齿间距大——面部畸形——发育迟缓综合症。与唇裂、精神运动迟滞和独特的面部特征相关的基因是KDM1A（赖氨酸去甲基酶1A）。相关组织包括小脑和大脑，相关表型是肌张力减退和全球发育迟缓。
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MALACARDS
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