Similar to ティモシー症候群

Hereditary sensory and autonomic neuropathy

Trisomy 18

Myotonic dystrophy

Muscular dystrophy

Down syndrome

Chédiak–Higashi syndrome

Dravet syndrome

Huntington's disease

Trisomy 16

DiGeorge syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Usher syndrome

Alport syndrome

Isovaleric acidemia

Williams syndrome

Werner syndrome

H syndrome

Ehlers–Danlos syndrome

Aicardi–Goutières syndrome

Ohtahara syndrome

Orotic aciduria

Cowden syndrome

Familial Mediterranean fever

Kallmann syndrome

Gangliosidosis

Rare disease