Similar to 脆弱X症候群

Trisomy 18

Noninvasive prenatal testing

Sotos syndrome

Down syndrome

Patau syndrome

Genetic disorder

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Usher syndrome

Alkaptonuria

Alport syndrome

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

Hereditary nonpolyposis colorectal cancer

Gastroschisis

Werner syndrome

Ehlers–Danlos syndrome

Ohtahara syndrome

Noonan syndrome

Cystic fibrosis

Homocystinuria

Anencephaly

Maple syrup urine disease

Lesch–Nyhan syndrome