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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome (MORMS)
Alias:
Morm Syndrome
Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome
Intellectual Disability-Truncal Obesity-Retinal Dystrophy-Micropenis Syndrome
Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis
Morms
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, and Micropenis
Penile Diseases
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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、躯干性肥胖、视网膜病变和小阴茎综合症,也被称为 morm 综合症,与巴德-比尔德综合症 1 和约伯特综合症 1 有关,症状包括盆腔疼痛。与智力发育障碍、躯干性肥胖、视网膜病变和小阴茎综合症有关的重要基因是 INPP5E (Inositol Polyphosphate-5-Phosphatase E)。在该疾病的背景下,提到的药物有利多卡因和镇静催眠药。相关组织包括眼睛和视网膜,相关表型包括语言和语言发展延迟以及视觉障碍。
Related ID:
MALACARDS:IMP022
OMIM:610156
MESH:D008607
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
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Reference
MALACARDS
常隐
未知
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1
10
2
IMP022
Medical Symptom
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Categorization
Description
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No data available
Gene & Mutation
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