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中文Renpenning Syndrome 1 (RENS1)
Alias:
Renpenning Syndrome
Golabi-Ito-Hall Syndrome
X-Linked Intellectual Disability Due to Pqbp1 Mutations
X-Linked Intellectual Disability, Renpenning Type
Sutherland-Haan X-Linked Mental Retardation Syndrome
Rens1
Mrxs3
Mrxs8
Mrx55
Shs
X-Linked Intellectual Deficit Due to Pqbp1 Mutations
Mental Retardation, X-Linked, with Spastic Diplegia
X-Linked Mental Retardation with Spastic Diplegia
X-Linked Intellectual Deficit, Renpenning Type
Mental Retardation, X-Linked, Renpenning Type
X-Linked Mental Retardation Renpenning Type
Mental Retardation, X-Linked, Syndromic 3
Mental Retardation, X-Linked, Syndromic 8
Syndromic X-Linked Mental Retardation 8
Hamel Cerebro-Palato-Cardiac Syndrome
Hamel Cerebropalatocardiac Syndrome
Mental Retardation, X-Linked 55
Renpenning Syndrome, Type 1
Sutherland-Haan Syndrome
Porteous Syndrome
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瑞彭宁综合症1，也被称为瑞彭宁综合症，与2型远端关节挛缩症和X连锁智力障碍有关，戈拉比-伊托-霍尔类型，症状包括肌肉痉挛。与瑞彭宁综合症1有关的重要基因是PQBP1（聚谷氨酸结合蛋白1）。附属组织包括睾丸和心脏，相关表型为智力障碍和全球发育延迟。
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