Similar to シトルリン血症

Joubert syndrome

Noninvasive prenatal testing

Neurofibromatosis

Neurofibromatosis type I

Neurofibromatosis type II

Cardiofaciocutaneous syndrome

Simpson–Golabi–Behmel syndrome

Smith–Magenis syndrome

Fragile X syndrome

Rare Disease Day

World Down Syndrome Day

Coeliac disease

Sertoli cell-only syndrome

Chromosome abnormality

Congenital muscular dystrophy

Paramyotonia congenita

Congenital insensitivity to pain with anhidrosis

Ciliopathy

Progeroid syndromes

Sotos syndrome

Glucose-6-phosphate dehydrogenase deficiency#Signs and symptoms

Turner syndrome

Osteopetrosis

Down syndrome

Chédiak–Higashi syndrome

Channelopathy

Timothy syndrome