Similar to 遺伝性感覚性自律神経性ニューロパチー

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Usher syndrome

Alport syndrome

Isovaleric acidemia

Werner syndrome

Ehlers–Danlos syndrome

Trisomy 18

Myotonic dystrophy

Muscular dystrophy

Dravet syndrome

Rabbit syndrome

Trisomy 16

DiGeorge syndrome

Alkaptonuria

Hereditary nonpolyposis colorectal cancer

Gastroschisis

Williams syndrome

H syndrome

Aicardi–Goutières syndrome

Ohtahara syndrome

Orotic aciduria

Cowden syndrome

Familial Mediterranean fever

Kallmann syndrome