To diagnose<unk>  a physician can either collect a bone marrow biopsy and look for sideroblastic anemia, a symptom of<unk> , or measure the fat content in a feces sample. Genetic testing is also an option in which identifying mutations in mitochondrial DNA, specifically deletions or duplications, would confirm the diagnosis of<unk> .
Pearson syndrome
Bart syndrome
Bart–Pumphrey syndrome
Warkany syndrome
Usher syndrome
McGillivray syndrome
Achard–Thiers syndrome
Nance–Horan syndrome