Molecular characteristics

FAM149B1 is a gene that produces a protein thought to play an important role in the healthy functioning of cilia, organelles (found on cells) that have crucial roles in cell signaling pathways and in maintaining cellular stability. Therefore, defects in cilia formation or function have significant effects on the development of body pattern and the physiology of many organ systems. Mutations in FAM149B1 cause the clinical manifestations described in the Clinical Characteristics section.