Similar to エーラス・ダンロス症候群

Usher syndrome

Neuromyotonia

Isovaleric acidemia

Sotos syndrome

Osteopetrosis

Chédiak–Higashi syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Alport syndrome

Hereditary sensory and autonomic neuropathy

Werner syndrome

Trisomy 18

Familial Mediterranean fever

Ichthyosis

Cronkhite–Canada syndrome

Xeroderma pigmentosum

Neurofibromatosis type I

Cardiofaciocutaneous syndrome

Simpson–Golabi–Behmel syndrome

Down syndrome

Dravet syndrome

Noonan syndrome

Patau syndrome

Huntington's disease

Marfan syndrome

Mitochondrial DNA depletion syndrome

Mitochondrial disease