Similar to 骨形成不全症

CHARGE syndrome

H syndrome

Rare disease

Ichthyosis

Myotonic dystrophy

Muscular dystrophy

Hypermethioninemia

Xeroderma pigmentosum

Neurofibromatosis type I

Neurofibromatosis type II

Rare Disease Day

Congenital insensitivity to pain with anhidrosis

Sotos syndrome

Turner syndrome

Osteopetrosis

Down syndrome

Dravet syndrome

Patau syndrome

Huntington's disease

Glycogen storage disease type II

Mitochondrial disease

Anencephaly

Monilethrix

Fibrodysplasia ossificans progressiva

Inborn errors of metabolism

Trisomy 16

DiGeorge syndrome

Chromosome 5q deletion syndrome