Similar to ファンコーニ貧血

Chromosome 5q deletion syndrome

Haemophilia

Von Willebrand disease

Trisomy 16

DiGeorge syndrome

CHARGE syndrome

MELAS syndrome

Usher syndrome

Alport syndrome

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

Williams syndrome

Werner syndrome

H syndrome

Ehlers–Danlos syndrome

Trisomy 18

Ohtahara syndrome

Orotic aciduria

Cowden syndrome

Familial Mediterranean fever

Sickle cell disease

Kallmann syndrome

Gangliosidosis

Rare disease

Gitelman syndrome

Ichthyosis