FB0055_6yo male with sagittal craniosynostosis, robin sequence, autism, brain glioma_Candidate Gene: NFIX

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 of Children's Hospital Los Angeles. Phenotype: - Proptosis - Pierre-Robin Sequence - Bilateral chryptorchidism - Brain glioma - Autism - Global Developmental Delay - Excessive wrinkling of palmar skin - Abnormality of the optic nerve - Hypoplasia of the optic nerve - Generalized hirsutism - Prominent fingertip pads - Abnormality of the midface Candidate Gene: _NFIX_