Similar to フェニルケトン尿症

Trisomy 18

Inborn errors of metabolism

Congenital adrenal hyperplasia

Tay–Sachs disease

Niemann–Pick disease

Homocystinuria

Sanfilippo syndrome

Maple syrup urine disease

Lysosomal storage disease

Lesch–Nyhan syndrome

Blue diaper syndrome

Adipokine

Medical equipment management

Wolff–Parkinson–White syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Neuromyotonia

Usher syndrome

Alport syndrome

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

Werner syndrome

Rabbit syndrome

Ehlers–Danlos syndrome