Similar to ウィリアムズ症候群

Trisomy 16

DiGeorge syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Usher syndrome

Alport syndrome

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

Werner syndrome

H 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