Similar to ATR-X症候群

Brunner syndrome

Common variable immunodeficiency

Becker muscular dystrophy

Peutz–Jeghers syndrome

Homocystinuria

Glycogen storage disease type II

Glycogen storage disease type V

Marsili syndrome

Marfan syndrome

Mitochondrial disease

Acatalasia

Maple syrup urine disease

Ataxia–telangiectasia

Laminopathy

Liddle's syndrome

Lipoid congenital adrenal hyperplasia

Leber's hereditary optic neuropathy

Lesch–Nyhan syndrome

Rett syndrome

Monilethrix

Rothmund–Thomson syndrome

Y chromosome microdeletion

Waardenburg syndrome

Syndrome

List of syndromes

Late-onset hypogonadism

Irlen syndrome