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中文Joubert Syndrome 1 (JBTS1)
Alias:
Joubert Syndrome
Cerebelloparenchymal Disorder Iv
Jbts
Cerebellooculorenal Syndrome 1
Familial Aplasia of the Vermis
Joubert-Boltshauser Syndrome
Joubert Syndrome and Related Disorders
Jbts1
Cors1
Cpd4
Cerebello-Oculo-Renal Syndrome
Classic Joubert Syndrome
Joubert Syndrome Type a
Pure Joubert Syndrome
Cpd Iv
Jsrd
Joubert Syndrome Related Disorders
Cerebello-Oculo-Renal Syndrome 1
Agenesis of Cerebellar Vermis
Joubert-Bolthauser Syndrome
Joubert Syndrome, Type 1
Joubert Syndrome-1
Joubert's Syndrome
Cors
Js
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Joubert Syndrome 1，也被称为Joubert综合症，与Coach综合症1和Orofaciodigital综合症VI有关，其症状包括共济失调。与Joubert Syndrome 1有关的重要基因是INPP5E（肌醇多磷酸-5-磷酸酶E），其相关通路/超级通路包括有丝分裂中心体中Nlp的丧失和细胞器生物发生和维护。药物甲硝唑已在该疾病的背景下被提及。附属组织包括脑和眼，相关表型为智力障碍和共济失调。
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