Similar to グルコース-6-リン酸脱水素酵素欠損症

Cystinosis

Homocystinuria

Glycogen storage disease type V

Maple syrup urine disease

Lipoid congenital adrenal hyperplasia

Lesch–Nyhan syndrome

Noonan syndrome

Metachondromatosis

RASopathy

Trisomy 16

DiGeorge syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Usher syndrome

Alkaptonuria

Alport syndrome

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

Williams syndrome

Werner syndrome

H syndrome

Ehlers–Danlos syndrome

Trisomy 18

Ohtahara syndrome

Albright's hereditary osteodystrophy

Orotic aciduria