Similar to 家族性高コレステロール血症

Hypermethioninemia

Osteogenesis imperfecta

Turner syndrome

Glycogen storage disease type II

Hyperlipidemia

Hypercholesterolemia

Genetic disorder

Trisomy 16

DiGeorge syndrome

Chromosome 5q deletion syndrome

ATR-X syndrome

CHARGE syndrome

FG syndrome

MELAS syndrome

Alpha-1 antitrypsin deficiency

Usher syndrome

Alkaptonuria

Albinism

Alport syndrome

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

Hereditary nonpolyposis colorectal cancer

Hereditary haemochromatosis

Gastroschisis

Williams syndrome

Werner syndrome