Similar to メープルシロップ尿症

Trisomy 18

Homocystinuria

Lesch–Nyhan syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Usher syndrome

Alkaptonuria

Alport syndrome

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

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