Similar to メタコンドロマトーシス

Glucose-6-phosphate dehydrogenase deficiency

Noonan syndrome with multiple lentigines

Noonan syndrome

RASopathy

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

Weaver syndrome

Williams syndrome

Werner syndrome

Rabbit syndrome

H syndrome

Ehlers–Danlos syndrome

Pyoderma gangrenosum

Trisomy 18

Erdheim–Chester disease