Multiple congenital anomalies-neurodevelopmental syndrome, X-linkedThe gene is on the X chromosome, so the condition is passed on, and often shows, differently in males and females. is a rare condition linked to the OTUD5 geneAn instruction in the body for making one protein. Each person has two copies of most genes.. How do we know this?

No two people with this condition are the same, and not everything on this page will apply to everyone.

Looking up how many people live with this… How do we know this?

Looking for patient groups…

• Write down your questions and take them to your next appointment (ours are below).

1. Has a geneAn instruction in the body for making one protein. Each person has two copies of most genes. change been found, and is it the kind usually seen in multiple congenital anomalies-neurodevelopmental syndrome, X-linkedThe gene is on the X chromosome, so the condition is passed on, and often shows, differently in males and females.?
2. Is there a treatment for this condition, or a study we could join?
3. Should we see a genetic counsellorA specialist who explains genetic test results and what they mean for a family. about what this means for the rest of the family?

Looking for studies… Search ClinicalTrials.gov yourself ↗