Similar to 先天性無痛無汗症

CHARGE syndrome

Chromosome 5q deletion syndrome

MELAS syndrome

Isovaleric acidemia

Werner syndrome

Ehlers–Danlos syndrome

Trisomy 18

Ohtahara syndrome

Rare disease

Osteogenesis imperfecta

Rare Disease Day

Sotos syndrome

Down syndrome

Dravet syndrome

Patau syndrome

Huntington's disease

Anencephaly

Monilethrix

Spinal muscular atrophy

Usher syndrome

Malformative syndrome

DiGeorge syndrome

Alkaptonuria

Hereditary nonpolyposis colorectal cancer

Gastroschisis

Williams syndrome