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• Congenital genetic disorders

Articles in category "Genetic disorders"

There are 94 articles in this category.

List of genetic disorders A Aarskog syndrome Aase syndrome Abderhalden-Kaufmann-Lignac syndrome Abetalipoproteinemia Achondroplasia Acrofacial dysostosis, Nager type Adducted thumb syndrome recessive form Adenosine deaminase deficiency Alkaptonuria Alpha-1-Antitrypsin Deficiency Alpha-mannosidosis Alport syndrome Andersen-Tawil syndrome Androgen insensitivity syndrome Aneuploidy Anticipation (genetics) Apert syndrome Ataxia telangiectasia B Bardet-Biedl syndrome Barth syndrome Becker's muscular dystrophy Birt-Hogg-Dubé syndrome Bloom syndrome C Canavan disease Charcot-Marie-Tooth disease Chromosome 22, microdeletion 22 q11 Chronic granulomatous disease Cockayne syndrome Coffin-Lowry syndrome Cri du chat

C cont. Crouzon syndrome D DiGeorge syndrome Dor Yeshorim E Ellis-van Creveld syndrome F Familial Mediterranean fever Familial adenomatous polyposis Familial dysautonomia Fanconi anemia Fragile X syndrome Fructose intolerance Fructose malabsorption G Galactosemia Gaucher's disease Genetic disorder Glanzmann's thrombasthenia H Haemophilia Hereditary hemorrhagic telangiectasia Hereditary nonpolyposis colorectal cancer Hereditary spastic paraplegia Hyperimmunoglobinemia D with recurrent fever I Immunodeficiency, centromere instability and facial anomalies syndrome J Jervell and Lange-Nielsen syndrome Joubert syndrome K Krabbe disease L Lesch-Nyhan syndrome Li-Fraumeni syndrome Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency M Marfan syndrome Medium chain acyl dehydrogenase deficiency Myeloperoxidase deficiency N Neurofibromatosis Neurofibromatosis type I

O Occipital horn syndrome P Pendred syndrome Peutz-Jeghers syndrome Phenylketonuria Polycystic kidney disease Porphyria Preimplantation genetic diagnosis Progeria Propionic acidemia R Retinitis pigmentosa Romano-Ward syndrome Rothmund-Thompson's syndrome Rubinstein-Taybi syndrome S Sickle cell anemia T TAR syndrome Tay-Sachs disease Thalassemia Timothy syndrome Treacher Collins syndrome Triple X syndrome Tuberous scelerosis Tuberous sclerosis Turner syndrome V Von Gierke's disease Von Willebrand disease W Waardenburg syndrome Werner syndrome Williams syndrome Wilson's disease Wiskott-Aldrich syndrome X Xeroderma pigmentosum