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Intellectual developmental disorder 61
- ... PubMed CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29; XLID29 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY ...
- ... function variants in HIVEP2 are a cause of intellectual disability. Eur J Hum Genet. 2016 Apr;24(4):556-61. doi: 10.1038/ejhg.2015.151. Epub 2015 ...
- ... COG5 gene are known to cause COG5-congenital disorder of glycosylation (COG5-CDG). This condition often leads to developmental delay and intellectual disability and causes other abnormalities. Mutations in the ...
- ... cause aberrant biochemical and physical properties leading to developmental disorders. Hum Mutat. 2011 Jan;32(1):33-43. ...