FB0107 Cleft palate, dysplastic ears, short stature, linear hyperpigmented streaks on skin, hearing loss, scoliosis, tetralogy of fallot

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.

本研究旨在收集、处理并研究确诊或疑似遗传疾病患者及其家属的样本。本研究的总体目标为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。我们的核心目标是为先证者（proband）所罹患的健康问题明确遗传学诊断，以便在适宜场景下，该信息可用于指导患者主治医生制定医疗决策。本数据集属于受限访问人类研究数据。若欲获取本数据集的访问权限，您需首先遵循[此处概述的流程](/odocs/data-guidelines/)。本案例由佩德罗·桑切斯（Pedro Sanchez）医生提交至FaceBase平台。