We welcome international collaboration for the collection of additional cases of TRAPPC6B-related syndrome. Given the rarity of this disorder and the broad phenotypic spectrum now recognized, sharing clinical, neuroimaging, and molecular data across centers is essential to better characterize the natural history and develop evidence-based management guidelines.
Aims:To expand the clinical and molecular delineation of TRAPPC6B-related syndrome, with particular focus on:
• Long-term natural history and prognosis
• Genotype-phenotype correlations
• Prevalence in consanguineous populations, particularly in the Middle East and North Africa
Inclusion criteria: Any individual with confirmed biallelic pathogenic or likely pathogenic variants in TRAPPC6B, regardless of age or ethnic background.
Contact:Clinicians and researchers interested in collaboration are welcome to contact the lead moderator: Prof. Maha S. Zaki (dr_mahazaki@yahoo.com)
TRAPPC6B