Similar to 眼咽頭型筋ジストロフィー

Genetic disorder

Trisomy 16

DiGeorge syndrome

Chromosome 5q deletion syndrome

ATR-X syndrome

CHARGE syndrome

Cri du chat syndrome

MELAS syndrome

Alpha-1 antitrypsin deficiency

Alkaptonuria

Albinism

Isovaleric acidemia

Hereditary nonpolyposis colorectal cancer

Hereditary haemochromatosis

Gastroschisis

Williams syndrome

Werner syndrome

Ehlers–Danlos syndrome

Aicardi–Goutières syndrome

Trisomy 18

FG syndrome

Emery–Dreifuss muscular dystrophy

Ohtahara syndrome

Hereditary hemorrhagic telangiectasia

Albright's hereditary osteodystrophy