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21 - 27 of 27
Genetic Disorders
About Duane Syndrome
Duane syndrome is a rare, congenital eye movement disorder.
Genetic Disorders
About Familial Mediterranean Fever
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
Genetic Disorders
About Velocardiofacial Syndrome
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… using more sophisticated lab studies such as comparative genomic hybridization, MLPA, additional FISH studies …
Genetic Disorders
About Familial Hypercholesterolemia
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
Genetic Disorders
About Wilson Disease
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
Genetic Disorders
About WAGR Syndrome
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
Genetic Disorders
About Severe Combined Immunodeficiency
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.