Similar to 高メチオニン血症

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Isovaleric acidemia

Werner syndrome

Ehlers–Danlos syndrome

Trisomy 18

Osteogenesis imperfecta

Turner syndrome

Glycogen storage disease type II

Trisomy 16

DiGeorge syndrome

Alkaptonuria

Hereditary nonpolyposis colorectal cancer

Gastroschisis

Williams syndrome

Ohtahara syndrome

Orotic aciduria

Cowden syndrome

Familial hypercholesterolemia

Familial Mediterranean fever

Kallmann syndrome

Gangliosidosis

Rare disease

Gitelman syndrome

Ichthyosis