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Fragile X syndrome. Fragile X syndrome ( FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. [3] [4] Physical features may include a long and narrow face, large ears, flexible fingers, and ...
Marfan syndrome ( MFS) is a multi-systemic genetic disorder that affects the connective tissue. [6] [7] [1] Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. [1] They also typically have exceptionally flexible joints and abnormally curved spines. [1]
Genetic heterogeneity occurs through the production of single or similar phenotypes through different genetic mechanisms. There are two types of genetic heterogeneity: allelic heterogeneity , which occurs when a similar phenotype is produced by different alleles within the same gene; and locus heterogeneity , which occurs when a similar phenotype is produced by mutations at different loci .
This is a list of the most common genetic disorders in humans. If known, the type of mutation is shown, and the chromosome involved. P – Point mutation, or any insertion/deletion entirely inside one gene. D – Deletion of a gene or genes. Dup - Duplication of a gene or genes.
Proposed alternatives to the current disorder-focused spectrum model deconstruct autism into at least two separate phenomena: (1) a non-pathological spectrum of behavioral traits in the population, and (2) the neuropathological burden of rare genetic mutations and environmental risk factors potentially leading to neurodevelopmental and psychological disorders, (3) governed by an individual's ...
Rare, indeed, is the family that is entirely free of any known genetic disorder. Many thousands of different genetic disorders with defined clinical symptoms have been identified. Of the 3 to 6 percent of newborns with a recognized birth defect, at least half involve a predominantly genetic contribution.
Pages in category "Genetic diseases and disorders". TRPM3-related neurodevelopmental disorder. Ulnar dysplasia. Variant of uncertain significance. Waardenburg Syndrome Type 1. Warfarin resistance. WNT4 deficiency. X-linked recessive hypoparathyroidism. X-linked sideroblastic anemia and spinocerebellar ataxia.
