Autosomal dominant intellectual developmental disorder

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[2]. Anna R Duncan, et al. Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. Am J Hum Genet. 2020 Dec 3;107(6):1170-1177. [Content Brief]

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[9]. Detelina Grozeva, et al. De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. Am J Hum Genet. 2014 Apr 3;94(4):618-24. [Content Brief]

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[13]. Fan Xia, et al. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 1;94(5):784-9. [Content Brief]

[14]. Ghayda M Mirzaa, et al. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med. 2020 Mar;22(3):538-546. [Content Brief]

[15]. Holly A F Stessman, et al. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nat Genet. 2017 Apr;49(4):515-526. [Content Brief]

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[17]. Janneke H M Schuurs-Hoeijmakers, et al. Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. Am J Hum Genet. 2012 Dec 7;91(6):1122-7. [Content Brief]

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[19]. K Huang, et al. SYNGAP: bridging the gap between genetic factors and autosomal non-syndromic mental retardation. Clin Genet. 2009 Aug;76(2):149-51. [Content Brief]

[20]. Kavita Bhalla, et al. Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. Am J Hum Genet. 2008 Dec;83(6):703-13. [Content Brief]

[21]. Lot Snijders Blok, et al. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Hum Genet. 2018 May;137(5):375-388. [Content Brief]

[22]. Marjolein H Willemsen, et al. GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. J Med Genet. 2013 Aug;50(8):507-14. [Content Brief]

[23]. Marjolein H Willemsen, et al. Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. J Med Genet. 2012 Mar;49(3):179-83. [Content Brief]

[24]. Markus Zweier, et al. Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum Mutat. 2010 Jun;31(6):722-33. [Content Brief]

[25]. Michael Feyder, et al. Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome. Am J Psychiatry. 2010 Dec;167(12):1508-17. [Content Brief]

[26]. Nina De Rocker, et al. Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity. Genet Med. 2015 Jun;17(6):460-6. [Content Brief]

[27]. Sabine Endele, et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet. 2010 Nov;42(11):1021-6. [Content Brief]

[28]. Sébastien Küry, et al. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 2;101(5):768-788. [Content Brief]

[29]. Slavé Petrovski, et al. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. Am J Hum Genet. 2016 May 5;98(5):1001-1010. [Content Brief]

[30]. Stephen R Williams, et al. Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Eur J Hum Genet. 2010 Apr;18(4):436-41. [Content Brief]

[31]. Yoshinori Tsurusaki, et al. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012 Mar 18;44(4):376-8. [Content Brief]