Similar to 眼咽頭型筋ジストロフィー

Homocystinuria

Glycogen storage disease type II

Glycogen storage disease type V

Marsili syndrome

Marfan 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

Monilethrix

Rothmund–Thomson syndrome

Y chromosome microdeletion

Waardenburg syndrome