List Of Genetic Disorders

List Of Genetic Disorders

Genetic disorders are genetic abnormalities that are passed down from the parents to the children and occur mainly due to abnormalities in the genes. These abnormalities are usually caused by mutations, gene deletions, extension of gene length, or even due to chromosomal aberrations

Thanks to the advancement that medical science has made, it is now possible to treat many genetic disorders provided they are detected early on. No longer are genetic disorders left untreated if there is a possibility of curing them.

Here is a list of more well-known genetic disorders:

Achromatopsia

Down Syndrome

Neural Tube Defects

Aicardi Syndrome

Epidermolysis Bullosa

Noonan Syndrome

Albinism

Familial Dysautonomia

Optic Atrophy

Alexander Disease

Fibrodysplasia

Osteogenesis Imperfecta

Alpers’ Disease

Fragile X Syndrome

Peutz-Jeghers Syndrome

Alzheimer’s Disease

Deficiency Anemia

Phenylketonuria (PKU)

Angelman Syndrome

Galactosemia

Pseudoxanthoma Elasticum

Autism

Gaucher Disease

Progeria

Bardet-Biedl Syndrome

Gilbert’s Syndrome

Scheie Syndrome

Barth Syndrome

Glaucoma

Schizophrenia

Best’s Disease

Hemochromatosis

Sickle Cell Anemia

Bipolar Disorder

Hemoglobin C Disease

Skeletal Dysplasias

Bloom Syndrome

Hemophilia/Bleeding Disorders

Spherocytosis

Canavan Syndrome

Hirschsprung’s Disease

Spina Bifida

Cancer Genetics

Homocystinuria

Spinocerebellar Ataxia

Carnitine Deficiencies

Huntington’s Disease

Stargardt Disease (Macular Degeneration)

Cerebral Palsy

Hurler Syndrome

Stickler Syndrome

Cleft Lip/Cleft Palate

Klinefelter Syndrome

Tay-Sachs Disease

Coffin Lowry Syndrome

Macular Degeneration

Thalassemia

Color Blindness

Marshall Syndrome

Treacher Collins Syndrome

Heart Defects

Menkes Disease

Tuberous Sclerosis

Hip Dysplasia

Metabolic Disorders

Turner’s Syndrome

Cooley’s Anemia

Microphthalmus

Urea Cycle Disorder

Corneal Dystrophy

Mitochondrial Disease

Usher’s Syndrome

Cystic Fibrosis

Mucolipidoses

Werner Syndrome

Cystinosis

Muscular Dystrophy

XXX Syndrome

Diabetes

Neonatal Onset Multisystem Inflammatory Disease

XYY Syndrome

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List Of Genetic Disorders