Similar to テイ＝サックス病

Anencephaly

Methylmalonic acidemias

Lipoid congenital adrenal hyperplasia

Double outlet right ventricle

Blue diaper syndrome

Mucopolysaccharidosis

Rare disease

Trisomy 16

DiGeorge syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Neuromyotonia

Subacute sclerosing panencephalitis

Malignant hyperthermia

Usher syndrome

Alport syndrome

Antithrombin III deficiency

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

Williams syndrome

Werner syndrome

Rabbit syndrome

Ehlers–Danlos syndrome

Pyoderma gangrenosum

Erdheim–Chester disease

Distal myopathy

Orotic aciduria