Similar to 家族性高コレステロール血症

Hypermethioninemia

Osteogenesis imperfecta

Turner syndrome

Glycogen storage disease type II

Genetic disorder

DiGeorge syndrome

Chromosome 5q deletion syndrome

ATR-X syndrome

CHARGE syndrome

Cri du chat syndrome

MELAS syndrome

Alpha-1 antitrypsin deficiency

Alkaptonuria

Albinism

Isovaleric acidemia

Hereditary nonpolyposis colorectal cancer

Hereditary haemochromatosis

Gastroschisis

Williams syndrome

Werner syndrome

Ehlers–Danlos syndrome

Aicardi–Goutières syndrome

Trisomy 18

FG syndrome

Emery–Dreifuss muscular dystrophy