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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.
Heart disorders (Congenital heart defects) Hemifacial microsomia; Holoprosencephaly; Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis
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
Category: Genetic disorders by inheritance. ... Print/export Download as PDF; Printable version; In other projects
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; List of heart disorders; List of liver ...
Download as PDF; Printable version; In other projects Wikidata item; Appearance. move to sidebar hide. This is a list of diseases ... Genetic diseases, inborn;
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 ]
S. Saal Greenstein syndrome; Saito–Kuba–Tsuruta syndrome; Sanjad–Sakati syndrome; Santos–Mateus–Leal syndrome; Say-Field-Coldwell syndrome; Scalp defects-postaxial polydactyly syndrome