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 are of the type “null” variant, they can lead to intellectual disability and anomalies of the fingers and/or toes.
ERI1 Hoxha-Aliu syndrome