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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
A genetic disorder is a health problem caused by one or more abnormalities in the genome. ... A major obstacle has been the delivery of genes to the appropriate cell ...
Pages in category "Genetic diseases and disorders" The following 187 pages are in this category, out of 187 total. This list may not reflect recent changes. ...
Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism; Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins; Costello syndrome; Craniopagus parasiticus; Cri du chat syndrome; Cyclopia; Cystic fibrosis
Known disorders in humans include Wolf–Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4; and Jacobsen syndrome, also called the terminal 11q deletion disorder. Duplications: A portion of the chromosome has been duplicated, resulting in extra genetic material.
Thalassemias are genetic disorders. [2] Alpha thalassemia is caused by deficient production of the alpha globin component of hemoglobin, while beta thalassemia is a deficiency in the beta globin component. [7] The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are ...
Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. [4] Risk factors include folate deficiency , drinking alcohol or smoking during pregnancy, poorly controlled diabetes , and a mother over the age of 35 years old.
A systematic comparative analysis of shared and unique genetic factors highlighted key gene sets and molecular processes underlying six major neuropsychiatric disorders: attention deficit hyperactivity disorder, anxiety disorders, autistic spectrum disorders, bipolar disorder, major depressive disorder, and schizophrenia. [9]
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