- Hereditary autosomal recessive disorder due to a DNA crosslink repair defect resulting in bone marrow failure
- Skeletal and organ abnormalities: short stature, hypo- and hyperpigmentation, cafe-au-lait spots, microcephaly, developmental delay, thumb and forearm malformations, kidney, GI, heart, eye, and ear abnormalities
- Laboratory tests show pancytopenia and normocytic or macrocytic anemia.
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