While <i>Flvcr1</i> knockout mice die <i>in utero</i> with skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia, rare biallelic pathogenic <i>FLVCR1</i> variants are linked to childhood or adult-onset neurodegeneration of the retina, spinal cord, and peripheral nervous system. This evidence concerns the gene FLVCR1 and Blackfan-Diamond anemia.