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中文Pilarowski-Bjornsson Syndrome (PILBOS)
Alias:
Developmental Delay and Speech Apraxia with or Without Seizures
Pilbos
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
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皮拉尔斯基-布约恩森综合症，也被称为发育迟缓和伴有或不伴有癫痫发作的言语失用症。与皮拉尔斯基-布约恩森综合症相关的重要基因是CHD1（染色域螺旋酶DNA结合蛋白1）。相关表型是全球性发育迟缓和全身性肌张力减退
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MALACARDS
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