Bi-allelic mutations in ERI1 can lead to health problems, depending on the type of mutation. See section “Caregivers - Molecular characteristics” for an explanation of what bi-allelic mutations (or bi-allelic variants) are. When bi-allelic variants include at least one variant of the type “missense” variant, they lead to short stature and a bone growth disorder called spondyloepimetaphyseal dysplasia.
ERI1 Guo-Campeau type