IREB2-associated neurodegeneration is an autosomal recessive disorder, also known as early onset neurodegeneration with choreoathetoid movements and microcytic anemia. To date, only three affected individuals have been described in the literature. Biallelic variants in IREB2 cause a multisystem disorder characterized by global developmental delay with neurodegeneration, dystonia, seizures, anemia with altered iron metabolism, and mitochondrial dysfunction.
IREB2