Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type (MRXST)

X连锁智力发育障碍综合征Turner型(来自ICD-11)

别称:

Juberg-Marsidi Syndrome

Brooks-Wisniewski-Brown Syndrome

Mental Retardation, X-Linked, Syndromic, Turner Type

Mental Retardation, X-Linked, with Growth Retardation, Deafness, and Microgenitalism

Mental Retardation, X-Linked, Syndromic, Brooks-Wisniewski-Brown Type

Mental Retardation and Macrocephaly Syndrome

Mrxsbwb

Mrxst

Jms

Intellectual Developmental Disorder, X-Linked Syndromic, Turner Type

Intellectual Disability, X-Linked Syndromic, Turner Type

Mental Retardation, X-Linked Syndromic, Turner Type

Brooks Wisniewski Brown Syndrome

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

智力发育障碍，X连锁，伴有综合征，特纳型，又称朱伯格-马尔西迪综合征，与小头畸形和伴有综合征的X连锁智力障碍特纳型有关，症状包括便秘、呕吐和肌肉痉挛。与智力发育障碍，X连锁，伴有综合征，特纳型有关的重要基因是HUWE1（HECT，UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1）。附属组织包括骨和骨骼肌，相关表型为智力障碍和大头症。

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