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Genetics Fact Sheets

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 Fact Sheets below are being updated and replaced in the table above

Trisomy 21 - Down Syndrome                                                                                                       
Trisomy 13 - Patau Syndrome
Trisomy 18 - Edwards Syndrome
Klinefelter syndrome - XXY Syndrome
Turner Syndrome - XO Syndrome
Cystic Fibrosis
Thalassaemias and Sickle Cell Disease
Tay-Sachs Disease and Other Conditions More Common in the Ashkenazi Jewish Community
Hereditary Haemochromatosis
Neurofibromatosis Type 1
Achondroplasia and Other Short Stature Syndromes
Blood Clotting Conditions (Thrombophilias) - Bleeding Conditions 1
Haemophilia - Bleeding Conditions 2
Duchenne and Becker Types of Muscular Dystrophy
Fragile X Syndrome
Autism Spectrum Disorders
Huntington Disease -Neurological Conditions 1
Alzheimer Disease and Dementia -Neurological Conditions 2
Parkinson Disease - Neurological Conditions 3
Neurofibromatosis Type 2
Familial Hypercholesterolaemia - Cardiovascular Disease 1
Cardiomyopathies - Cardiovascular Disease 2
Long QT Syndrome - Cardiovascular Disease 3
Hypertension, Heart Defects and Other Rare Conditions - Cardiovascular Disease 4
Diabetes Types 1 and 2 and Inherited Predisposition
Mental Illness and Inherited Predisposition - Schizophrenia and Bipolar Disorder
Neural Tube Defects - Spina Bifida and Anencephaly
Deafness and Hearing Loss - Genetic Aspects
Tuberous Sclerosis Complex


    Last updated: Oct 27, 2015