FB0099 Female proband with Robin sequence, cleft palate and micrognathia. Additional five family members sequenced.

The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand the genetic causes of disease in order to improve the ability to diagnose, treat, and even prevent illness. Our goal is to obtain a genetic diagnosis for health problem(s) the proband has, so the information can be used, when appropriate, to guide medical decisions made by the affected individuals doctor. This is restricted-access human data. To gain access to this data, you must first go through the [process outlined here](/odocs/data-guidelines/). This case was brought to the attention of FaceBase from Dr. Pedro Sanchez. Additional information: Mother has micrognathia and heart valve deficiency. Maternal aunt 1 has multiple sclerosis, maternal aunt 2 has Ehlers Danlos syndrome. Maternal grandmother has artificial heart valve.

本研究旨在收集、处理并研究确诊或疑似遗传病患者及其家属的样本。本研究的核心目标在于深入解析疾病的遗传致病机制，从而提升疾病的诊断、治疗乃至预防能力。我们的目标是为先证者（proband）所患的健康问题获取遗传学诊断结果，以便在适当时机下，该信息可用于指导患者的主治医生制定医疗决策。本数据集属于受限访问人类受试者数据。若要获取该数据集的访问权限，您需首先遵循[此处列出的流程](/odocs/data-guidelines/)。本案例由佩德罗·桑切斯（Pedro Sanchez）医生提交至FaceBase。额外信息：母亲患有小颌畸形（micrognathia）与心脏瓣膜缺损；母系大姨1患有多发性硬化症，母系大姨2患有埃勒斯-当洛斯综合征（Ehlers Danlos syndrome）；外祖母曾植入人工心脏瓣膜。