Similar to Α1-アンチトリプシン欠乏症

Cri du chat syndrome

Cystic fibrosis

Friedreich's ataxia

High-altitude pulmonary edema

Genetic disorder

Trisomy 16

DiGeorge syndrome

Chromosome 5q deletion syndrome

ATR-X syndrome

CHARGE syndrome

FG syndrome

MELAS syndrome

Usher syndrome

Alkaptonuria

Albinism

Alport syndrome

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

Hereditary nonpolyposis colorectal cancer

Hereditary haemochromatosis

Gastroschisis

Williams syndrome

Werner syndrome

H syndrome

Ehlers–Danlos syndrome