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For more information on autosomal recessive inheritance, ... Pages in category "Autosomal recessive disorders" The following 200 pages are in this category, out of ...
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.
Template:X-linked disorders; X-linked dystonia parkinsonism; X-linked intellectual disability; X-linked recessive chondrodysplasia punctata; X-linked sideroblastic anemia and spinocerebellar ataxia; X-linked spinal muscular atrophy type 2; XMEN disease
The most common X-linked recessive disorders are: [7] Red–green color blindness, also known as daltonism, [8] which affects roughly 7% to 10% of men and 0.49% to 1% of women. Its relative benignity may explain its commonness. Hemophilia A, a blood clotting disorder caused by a mutation of the Factor VIII gene and leading to a deficiency of ...
[24] [25] Some autosomal recessive disorders are common because, in the past, carrying one of the faulty genes led to a slight protection against an infectious disease or toxin such as tuberculosis or malaria. [26] Such disorders include cystic fibrosis, [27] sickle cell disease, [28] phenylketonuria [29] and thalassaemia. [30]
Pages in category "Genetic diseases and disorders" The following 187 pages are in this category, out of 187 total. ... Autosomal recessive axonal neuropathy with ...
Vitamin B 12 deficiency anemia due to selective vitamin B 12 malabsorption with proteinuria (also known as Imerslund-Gräsbeck syndrome) is a rare autosomal recessive disorder which requires the indefinite administration of Vitamin B12 injections. [9] Megaloblastic hereditary anemia: D51.1, D52.0, D53.1: 29507
Autosomal recessive disorders (5 C, 441 P) M. Mitochondrial diseases (25 P) X. X-linked dominant disorders (18 P) X-linked recessive disorders (51 P)