Donnai-Barrow Syndrome (DBS)

Donnai-Barrow综合征(来自ICD-11)

别称:

Faciooculoacousticorenal Syndrome

Dbs/foar Syndrome

Foar Syndrome

Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome

Facio-Oculo-Acoustico-Renal Syndrome

Syndrome of Ocular and Facial Anomalies, Telecanthus and Deafness

Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome

Holmes-Schepens Syndrome

Dbs

Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, and Proteinuria

Syndrome of Ocular and Facial Anomalies, Telecanthus and Hearing Loss

Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome

Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis

Donnai Barrow Syndrome

Foar

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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

唐氏-巴罗综合征，又称面眼声肾综合征，与低眼脑肾综合征和牙病1有关，症状包括不明原因的视力丧失。唐氏-巴罗综合征相关的重要基因是LRP2（LDL受体相关蛋白2），其相关通路/超级通路包括钴胺素（Cbl，维生素B12）运输和代谢以及重连信号通路。附属组织包括心脏和大脑，相关表型为智力障碍和全球发育延迟。

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