Similar to 家族性地中海熱

Usher syndrome

Isovaleric acidemia

Ehlers–Danlos syndrome

Cronkhite–Canada syndrome

Sotos syndrome

Osteopetrosis

Huntington's disease

Mitochondrial disease

Leber's hereditary optic neuropathy

Trisomy 16

DiGeorge syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Alport syndrome

Hereditary sensory and autonomic neuropathy

Williams syndrome

Werner syndrome

H syndrome

Trisomy 18

Ohtahara syndrome

Orotic aciduria

Cowden syndrome

Kallmann syndrome

Gangliosidosis

Rare disease

Gitelman syndrome

Ichthyosis