Similar to 筋緊張性ジストロフィー

Cardiofaciocutaneous syndrome

Simpson–Golabi–Behmel syndrome

Rare Disease Day

Chromosome abnormality

Paramyotonia congenita

Congenital insensitivity to pain with anhidrosis

Sotos syndrome

Turner syndrome

Osteopetrosis

Down syndrome

Chédiak–Higashi syndrome

Channelopathy

Treacher Collins syndrome

Cystic fibrosis

Progeria

Patau syndrome

Fanconi anemia

Von Willebrand disease

Von Hippel–Lindau disease

Prader–Willi syndrome

Friedreich's ataxia

Peutz–Jeghers syndrome

Homocystinuria

Glycogen storage disease type II

Glycogen storage disease type V

Marfan syndrome