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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.
Category: Genetic disorders by inheritance. ... Download as PDF; Printable version; ... Autosomal dominant disorders (3 C, 211 P)
Indian Genetic Disease Database; Infantile cerebellar retinal degeneration; Infantile cortical hyperostosis; Inherited thrombotic thrombocytopenic purpura; Intellectual disability-spasticity-ectrodactyly syndrome; Iris hypoplasia with glaucoma; Isolated hyperCKemia
The following conditions and disorders were recommended as a "core panel" by the 2005 report of the American College of Medical Genetics (ACMG). [1] The incidences reported below are from the full report, though the rates may vary in different populations. [2] Blood cell disorders. Sickle cell anemia (Hb SS) > 1 in 5,000; among African ...
List of human disease case fatality rates; List of notifiable diseases - diseases that should be reported to public health services, e.g., hospitals. Lists of plant diseases; List of pollution-related diseases; List of skin conditions; List of diseases by year of discovery; Disorders. List of communication disorders; List of genetic disorders ...
There are well over 6,000 known genetic disorders, [4] and new genetic disorders are constantly being described in medical literature. [5] More than 600 genetic disorders are treatable. [ 6 ] Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected by a chromosomal disorder . [ 7 ]
Category: Genetic disorders by system. ... Download as PDF; Printable version; In other projects ... Huntington's disease (1 C, 46 P) M.
Legg–Calvé–Perthes disease; Legius syndrome; Leiner's disease; Lelis syndrome; Lemierre's syndrome; Lennox–Gastaut syndrome; Lenz microphthalmia syndrome; Lenz–Majewski syndrome; Leriche's syndrome; Leschke syndrome; Lesch–Nyhan syndrome; Lethal congenital contracture syndrome; Lethal white syndrome