Similar to レーベル遺伝性視神経症

Usher syndrome

Isovaleric acidemia

Ehlers–Danlos syndrome

Familial Mediterranean fever

Cronkhite–Canada syndrome

Sotos syndrome

Osteopetrosis

Huntington's disease

Marfan syndrome

Mitochondrial disease

Behçet's disease

Trisomy 16

DiGeorge syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Albinism

Alport syndrome

Hereditary sensory and autonomic neuropathy

Williams syndrome

Werner syndrome

H syndrome

Trisomy 18

Ohtahara syndrome

Orotic aciduria

Cowden syndrome

Kallmann syndrome

Gangliosidosis