Similar to ホモシスチン尿症

Trisomy 18

Maple syrup urine disease

Lesch–Nyhan syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Alkaptonuria

Isovaleric acidemia

Werner syndrome

Ehlers–Danlos syndrome

Ohtahara syndrome

Glucose-6-phosphate dehydrogenase deficiency

Cystinosis

Sotos syndrome

Down syndrome

Cystic fibrosis

Patau syndrome

Glycogen storage disease type V

Anencephaly

Lipoid congenital adrenal hyperplasia

Inborn errors of metabolism

Congenital adrenal hyperplasia

Tay–Sachs disease

Niemann–Pick disease

Phenylketonuria

Lysosomal storage disease

Blue diaper syndrome

Genetic disorder