Bi-allelic null variants in ERI1 are associated with intellectual disability and digital anomalies, namely syndactyly. Brachydactyly/clinodactyly/camptodactyly were seen in all probands of a published cohort of 8 individuals with bi-allelic ERI1 variants. Additional findings included cardiac anomalies, hydronephrosis, and developmental delay. Macrocytic anemia and congenital neutropenia were also noted in one individual and in Eri1 knock-out mice.
A homozygous 284 kb genomic deletion covering ERI1, MFHAS1 and MIR4660 had been previously reported in an individual with intellectual disability, cardiac malformation, and digit abnormalities. A homozygous ERI1 nonsense variant was later reported in an individual with developmental delay and distal limb abnormalities.
ERI1 Hoxha-Aliu syndrome