Syndromic intellectual developmental disorder

Definition:

Syndromic intellectual developmental disorder (IDD) is a group of disorders characterized by intellectual disability presented together with additional features such as facial dysmorphisms or congenital anomalies. Several underlying genetic causes of these disorders have been identified.

References:

[1]. Anne Gregor, et al. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. Am J Hum Genet. 2018 Aug 2;103(2):305-316. [Content Brief]

[2]. Ashfaque Ahmed, et al. Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy. Hum Genet. 2021 Apr;140(4):579-592. [Content Brief]

[3]. Chris Balak, et al. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. Am J Hum Genet. 2019 Sep 5;105(3):509-525. [Content Brief]

[4]. Christiane K Bauer, et al. Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome. Am J Hum Genet. 2018 Oct 4;103(4):621-630. [Content Brief]

[5]. Claire Guissart, et al. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Am J Hum Genet. 2018 May 3;102(5):744-759. [Content Brief]

[6]. Cristina Dias, et al. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. Am J Hum Genet. 2016 Aug 4;99(2):253-74. [Content Brief]

[7]. Dalibor Blazek, et al. The Cyclin K/Cdk12 complex maintains genomic stability via regulation of expression of DNA damage response genes. Genes Dev. 2011 Oct 15;25(20):2158-72. [Content Brief]

[8]. Davor Lessel, et al. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain. 2018 Aug 1;141(8):2299-2311. [Content Brief]

[9]. Diane Doummar, et al. Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia. Eur J Hum Genet. 2020 Oct;28(10):1403-1413. [Content Brief]

[10]. Eduardo Calpena, et al. De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. Am J Hum Genet. 2019 Apr 4;104(4):709-720. [Content Brief]

[11]. Elisa Rahikkala, et al. Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome). Genet Med. 2019 Oct;21(10):2355-2363. [Content Brief]

[12]. Elisabeth M Lodder, et al. GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. Am J Hum Genet. 2016 Sep 1;99(3):704-710. [Content Brief]

[13]. Francesca Mattioli, et al. Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. Am J Hum Genet. 2017 Jan 5;100(1):105-116. [Content Brief]

[14]. Hyung-Goo Kim, et al. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism. Mol Autism. 2019 Oct 22;10:35. [Content Brief]

[15]. I M Krzyzewska, et al. A genome-wide DNA methylation signature for SETD1B-related syndrome. Clin Epigenetics. 2019 Nov 4;11(1):156. [Content Brief]

[16]. Johanna Schäfgen, et al. De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. Eur J Hum Genet. 2016 Dec;24(12):1739-1745. [Content Brief]

[17]. Joshi Stephen, et al. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. Am J Hum Genet. 2018 Dec 6;103(6):948-967. [Content Brief]

[18]. Lindsey D Goodman, et al. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 2021 Sep 2;108(9):1669-1691. [Content Brief]

[19]. Marija Dulovic-Mahlow, et al. De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders. Am J Hum Genet. 2019 Jul 3;105(1):213-220. [Content Brief]

[20]. Maya Chopra, et al. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet. 2021 Jun 3;108(6):1138-1150. [Content Brief]

[21]. Myriam Srour, et al. Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy. Am J Hum Genet. 2017 May 4;100(5):824-830. [Content Brief]

[22]. Sandra Jansen, et al. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. Eur J Hum Genet. 2018 Jan;26(1):54-63. [Content Brief]

[23]. Sandra Jansen, et al. De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. Am J Hum Genet. 2017 Apr 6;100(4):650-658. [Content Brief]

[24]. Sateesh Maddirevula, et al. Autozygome and high throughput confirmation of disease genes candidacy. Genet Med. 2019 Mar;21(3):736-742. [Content Brief]

[25]. Scott Bell, et al. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. Am J Hum Genet. 2019 May 2;104(5):815-834. [Content Brief]

[26]. Teresa Santiago-Sim, et al. Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet. 2017 Apr 6;100(4):676-688. [Content Brief]

[27]. Yasmin Tatour, et al. Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. J Med Genet. 2017 Sep 18;54(10):698-704. [Content Brief]

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