Bi-allelic mutations in ERI1 can lead to health problems, depending on the type of mutation. Bi-allelic “null” variants lead to intellectual disability and anomalies of the fingers and/or toes. 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 Hoxha-Aliu syndrome