نتایج جستجو برای: linked mental retardation
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the hereditary ataxias are a group of genetically defined neurological diseases which are characterized by heterogeneous clinical presentations. ataxia is defined as imbalance and lack of coordination. mental retardation associated with ataxia has been reported in some of the known and recently identified syndromes. in this review, we describe some known and novel genes that cause familial ment...
sjogren-larsson syndrome (sls) is an inherited autosomal recessive neurocutaneous disorder with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. we report a case of sjogren-larsson syndrome with clinical profile (mental retardation, ichthyosis, spastic diplegia) and mri findings such as seen in multiple sclerosis (ms). so this rare syndrome can be another differen...
Nonsyndromic X-linked mental retardation (MRX) is defined by an X-linked inheritance pattern of low IQ, problems with adaptive behavior, and the absence of additional specific clinical features. The 13 MRX genes identified to date account for less than one-fifth of all MRX, suggesting that numerous gene defects cause the disorder in other families. In a female patient with severe nonsyndromic m...
Fragile X syndrome (FraX) is one of the most prevalent genetic causes of developmental disability, representing the most frequent form of inherited severe cognitive deficit, second only to Down syndrome as a genetic cause of mental retardation. It is estimated that the FraX affects approximately 1 in 2,500 individuals [Gustavson et al., 1986; Webb et al., 1986; Neri et al., 1988; Rousseau et al...
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