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Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, [1] is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment.
Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa . [ 4 ]
Thirdly, genes that influence one learning disability (e.g., reading disability) are largely the same as those that influence other learning disabilities (e.g., mathematics disability). The Generalist Genes hypothesis has important implications for education, cognitive sciences and molecular genetics. [2] [3] [4]
COACH syndrome is categorized as a Jobert syndrome related disorder (JSRD). Joubert syndrome affects approximately 1 in 80,000 to 1 in 100,000 live births, meaning it is a rare disease, while COACH syndrome is even more rare, with only 43 cases being reported from its discovery until 2010. [3]
Signs and symptoms of the disorder first appear in early to mid-adulthood. People with this condition initially experience impaired speech , problems with coordination and balance , or both. They may also have difficulty with movements that involve judging distance or scale .
This gene–environment interaction was not apparent at age 10 months, suggesting that the effect emerges over the course of early development. [ 58 ] A 2012 study based on a representative sample of twins from the United Kingdom , with longitudinal data on IQ from age two to age fourteen, did not find evidence for lower heritability in low-SES ...
The effect of double heterozygous mutations in the genes MITF and PAX3 in WS1 and WS2 can increase the pigment-affected symptoms. It leads to the conclusion that the double mutation of MITF is associated with the extremity of Waardenburg syndrome and may affect the phenotypes or symptoms of the syndrome.
Gene Description Ocular albinism, type 1 (OA1) 300500: GPR143: Also known as Nettleship–Falls syndrome, [4] [5] [6] is the most common variety of ocular albinism. OA1 is usually associated with nystagmus, and difficult to otherwise detect in females; males show more readily observable symptoms. Ocular albinism, type 2 (OA2) 300600: CACNA1F [7]