Bi-allelic mutations in ERI1 can lead to health problems, depending on the type of mutation. “Bi-allelic mutations (or variants)” that include at least one “missense variant” lead to short stature and a bone growth disorder called spondyloepimetaphyseal dysplasia. Individuals can have other clinical findings such as heart anomalies, kidney anomalies, delay in learning and/or movement skills compared to other children, and abnormal findings regarding blood cells.
ERI1 Guo-Campeau type