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PedAM

Pediatric Disease Annotations & Medicines




Disease n syndrome
Phenotype C0025362|mental retardation
Sentences 14
PubMedID- 22456342 Ahc can be associated with glycerol kinase deficiency, duchenne muscular dystrophy and mental retardation (mr), as part of a contiguous gene deletion syndrome.
PubMedID- 20528079 In addition to mental retardation, individuals with down syndrome (ds) also develop the neuropathological changes typical of alzheimer's disease (ad) and the majority of these individuals exhibit dementia.
PubMedID- 20658450 Gitelman syndrome with mental retardation: a case report.
PubMedID- 20478419 The presence of clinical features of the marfan syndrome (mfs) spectrum associated with mental retardation has been described in only 2/4 patients.
PubMedID- 21480146 We report the case of a patient affected by chromosome 8 p deletion syndrome with mental retardation, referred to our unit for suspected gerd.
PubMedID- 21909210 He also suffered mental retardation due to down syndrome since birth.
PubMedID- 21266456 mental retardation in down syndrome (ds) appears to be related to severe neurogenesis impairment during critical phases of brain development.
PubMedID- 20093387 Deletion of 16p11.2 is a common microdeletion syndrome associated with mental retardation.
PubMedID- 22115353 However, excessive production of hydrogen sulfide, by using inorganic hydrogen sulfide donors such as nahs, may contribute to the pathogenesis of inflammatory diseases, septic shock, cerebral stroke and mental retardation in patients with down syndrome.
PubMedID- 21605373 Cohen syndrome patients present with mental retardation in 99% of cases, but learning disabilities featured in less than half of tns affected dogs.
PubMedID- 19752158 A triplication of the williams-beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.
PubMedID- 21836337 Bardet-biedl and laurence-moon syndromes are associated with mental retardation, hypogonadism, polydactyly and obesity.
PubMedID- 19899002 Mutations in the human fukutin-related protein gene and pomt1/2 genes, which affect the glycosylation of α-dystroglycan, also result in syndromes associated with severe mental retardation (fukuyama congenital muscular dystrophy and walker–warburg syndrome), further indicating roles for the dgc in the development of circuitry required for cognition [26].
PubMedID- 23500531 Although sqle does not appear to be linked to an inherited disease, it was suggested earlier that the gene encoding sqle is a candidate for langer–giedion syndrome, which is associated with mental retardation and microcephaly [60].

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