Similar to ロスムンド・トムソン症候群

Brunner syndrome

Common variable immunodeficiency

Becker muscular dystrophy

Peutz–Jeghers syndrome

Homocystinuria

Glycogen storage disease type II

Glycogen storage disease type V

Marsili syndrome

Mitochondrial DNA depletion syndrome

Mitochondrial disease

Persistent Müllerian duct syndrome

Acatalasia

Anencephaly

Maple syrup urine disease

Ataxia–telangiectasia

RASopathy

Laminopathy

Liddle's syndrome

Lipoid congenital adrenal hyperplasia

Leber's hereditary optic neuropathy

Lesch–Nyhan syndrome

Rett syndrome

Y chromosome microdeletion

Waardenburg syndrome

Henoch–Schönlein purpura

Melanoma

Athlete's foot