Similar to クロンカイト・カナダ症候群

Cowden syndrome

Peutz–Jeghers syndrome

Isovaleric acidemia

Ehlers–Danlos syndrome

Familial adenomatous polyposis

Familial Mediterranean fever

Sotos syndrome

Osteopetrosis

Huntington's disease

Mitochondrial disease

Leber's hereditary optic neuropathy

Fundic gland polyposis

Juvenile polyposis syndrome

DiGeorge syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Williams syndrome

Werner syndrome

Trisomy 18

Ohtahara syndrome

Orotic aciduria

Kallmann syndrome

Gangliosidosis

Rare disease

Gitelman syndrome

Ichthyosis

Myotonic dystrophy