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Encyclopedia of Genetic And congenital Disorders

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Thalassemia

Thalassemia (British English: thalassaemia), also called Mediterranean anemia, is a form of inherited autosomal recessive blood disorder characterized by abnormal formation of hemoglobin.[1] The abnormal hemoglobin […]
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Fragile X syndrome

Fragile X syndrome (FXS), also known as Martin-Bell syndrome, or Escalante’s syndrome (more commonly used in South American countries), is a genetic syndrome. Nearly half of […]
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Cerebral palsy

Cerebral palsy (CP) is a group of permanent movement disorders that appear in early childhood. Signs and symptoms vary between people. Often, symptoms include poor coordination, […]
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Intellectual disability

Intellectual disability (ID), also called intellectual development disorder (IDD), general learning disability,[1] or mental retardation (MR),[2][3][4] is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual […]