Similar to CHARGE症候群

Chromosome 5q deletion syndrome

MELAS syndrome

Isovaleric acidemia

Werner syndrome

Ehlers–Danlos syndrome

Trisomy 18

Rare disease

Osteogenesis imperfecta

Rare Disease Day

Congenital insensitivity to pain with anhidrosis

Sotos syndrome

Down syndrome

Dravet syndrome

Patau syndrome

Anencephaly

Monilethrix

Trisomy 16

DiGeorge syndrome

Alkaptonuria

Hereditary nonpolyposis colorectal cancer

Gastroschisis

Williams syndrome

Ohtahara syndrome

Orotic aciduria

Cowden syndrome

Familial Mediterranean fever