Intellectual disability is a substantial impairment of cognitive and adaptive functions that has onset in childhood. Former terms with similar meaning are cognitive impairment and mental retardation. Dementia has a different definition. A large range of conditions can cause intellectual disability.
A wide range of genes have been associated.
Some also cause syndromic - see below (italics suspected as of 2012 ).
- ARHGEF9 - Early infantile epileptic encephalopathy type 8
- FGFR3 - Muenke syndrome
- FMR1 - Fragile X syndrome
- GRIN2A - Epilepsy with neurodevelopmental defects
- KMT2D - Kabuki syndrome
- KDM6A - Kabuki syndrome
- LPR2 - Donnai-Barrow syndrome
- PDHA1 - Pyruvate dehydrogenase E1-alpha deficiency
- SCN2A - Early infantile epileptic encephalopathy type 11
- SIL1 - Marinesco-Sjögren syndrome
- SKI - Shprintzen-Goldberg syndrome
- SLC6A8 - Creatine deficiency syndrome
- TCF4 - Pitt-Hopkins syndrome
- TUBA1A - Lissencephaly
This article is a work in progress. Please feel free to contribute to it.
- ↑ de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, Del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability. The New England journal of medicine. 2012 Oct 3.(Epub ahead of print) (Link to article – subscription may be required.)