Similar to メープルシロップ尿症

50 (number)

70 (number)

ATR-X syndrome

Cri du chat syndrome

Alpha-1 antitrypsin deficiency

Albinism

Hereditary haemochromatosis

Aicardi–Goutières syndrome

FG syndrome

Emery–Dreifuss muscular dystrophy

Hereditary hemorrhagic telangiectasia

Familial hypercholesterolemia

Familial adenomatous polyposis

Sickle cell disease

Oculopharyngeal muscular dystrophy

Klinefelter syndrome

Collie eye anomaly

Joubert syndrome

Smith–Magenis syndrome

World Down Syndrome Day

Coeliac disease

Sertoli cell-only syndrome

Chromosomal translocation

Congenital muscular dystrophy

Ciliopathy