Similar to フォン・ヒッペル・リンドウ病

Trisomy 16

DiGeorge syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Isovaleric acidemia

Williams syndrome

Werner syndrome

Ehlers–Danlos syndrome

Trisomy 18

Ohtahara syndrome

Orotic aciduria

Cowden syndrome

Familial Mediterranean fever

Kallmann syndrome

Gangliosidosis

Rare disease

Gitelman syndrome

Ichthyosis

Myotonic dystrophy

Muscular dystrophy

Glucose-6-phosphate dehydrogenase deficiency

Cronkhite–Canada syndrome

Haemophilia

Primary ciliary dyskinesia

Hyperkalemic periodic paralysis

Hypermethioninemia

Cockayne syndrome