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F1000Res. 2016 Apr 7;5. pii: F1000 Faculty Rev-599. doi: 10.12688/f1000research.7134.1. eCollection 2016.

Advances in understanding - genetic basis of intellectual disability.

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Institute of Genomic Medicine, Catholic University School of Medicine, Rome, Italy.
Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.


Intellectual disability is the most common developmental disorder characterized by a congenital limitation in intellectual functioning and adaptive behavior. It often co-occurs with other mental conditions like attention deficit/hyperactivity disorder and autism spectrum disorder, and can be part of a malformation syndrome that affects other organs. Considering the heterogeneity of its causes (environmental and genetic), its frequency worldwide varies greatly. This review focuses on known genes underlying (syndromic and non-syndromic) intellectual disability, it provides a succinct analysis of their Gene Ontology, and it suggests the use of transcriptional profiling for the prioritization of candidate genes.

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