Similar to 筋緊張性ジストロフィー

Williams syndrome

Werner syndrome

Ehlers–Danlos syndrome

Aicardi–Goutières syndrome

Trisomy 18

Ohtahara syndrome

Orotic aciduria

Cowden syndrome

Familial Mediterranean fever

Kallmann syndrome

Gangliosidosis

Rare disease

Gitelman syndrome

Glucose-6-phosphate dehydrogenase deficiency

Cronkhite–Canada syndrome

Haemophilia

Primary ciliary dyskinesia

Hyperkalemic periodic paralysis

Hypermethioninemia

Cockayne syndrome

Cystinosis

Periodic paralysis

Neurofibromatosis

Cardiofaciocutaneous syndrome

Simpson–Golabi–Behmel syndrome

Rare Disease Day

Chromosome abnormality

Paramyotonia congenita