Trial Parameters
Condition Bohring-Opitz Syndrome
Sponsor University of California, Los Angeles
Study Type OBSERVATIONAL
Phase N/A
Enrollment 200
Sex ALL
Min Age N/A
Max Age N/A
Start Date 2017-09-20
Completion 2037-09
Brief Summary
A registry focused on the natural history, management and treatment of patients with Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2) and Bainbridge-Ropers Syndrome (ASXL3).
Eligibility Criteria
Inclusion Criteria: * Clinical or molecular diagnosis of an ASXL related disorder Exclusion Criteria: * No clinical or molecular diagnosis of an ASXL related disorder