Similar to マッカードル病

Glucose-6-phosphate dehydrogenase deficiency

Cystinosis

Homocystinuria

Maple syrup urine disease

Lipoid congenital adrenal hyperplasia

Lesch–Nyhan syndrome

Trisomy 16

DiGeorge syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Alkaptonuria

Isovaleric acidemia

Williams syndrome

Werner syndrome

Ehlers–Danlos syndrome

Trisomy 18

Ohtahara syndrome

Albright's hereditary osteodystrophy

Orotic aciduria

Cowden syndrome

Familial Mediterranean fever

Kallmann syndrome

Gangliosidosis

Rare disease

Gitelman syndrome

Ichthyosis

Myotonic dystrophy