Molecular characteristics

UGDH gene is required by the body to produce UGDH protein that is critical in the formation of the extracellular matrix (i.e. scaffold) for the developing brain. Jamuar syndrome is caused when both copies of the UGDH gene have variations which affect/ disrupt UGDH protein function. This impairs the development of the brain, and results in the clinical features seen in patients with Jamuar syndrome.