Similar to Α1-アンチトリプシン欠乏症

Cri du chat syndrome

Primary ciliary dyskinesia

Cystic fibrosis

Friedreich's ataxia

Genetic disorder

DiGeorge syndrome

Chromosome 5q deletion syndrome

ATR-X syndrome

CHARGE syndrome

MELAS syndrome

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