Similar to ターナー症候群

Trisomy 16

Chromosome abnormality

Hypermethioninemia

Osteogenesis imperfecta

Glycogen storage disease type II

Gonadal dysgenesis

Genetic disorder

Chromosomal translocation

DiGeorge syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Usher syndrome

Alport syndrome

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

Williams syndrome

Werner syndrome

H syndrome

Ehlers–Danlos syndrome

Trisomy 18

Ohtahara syndrome

Orotic aciduria

Cowden syndrome

Familial hypercholesterolemia

Familial Mediterranean fever