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Quoted phrase not found in phrase index: "Intellectual developmental disorder with impaired language and dysmorphic facies"
Page 1
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
Lesca G, Moizard MP, Bussy G, Boggio D, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Des Portes V, Labalme A, Sanlaville D, Edery P, Raynaud M, Lespinasse J. Lesca G, et al. Am J Med Genet A. 2013 Dec;161A(12):3063-71. doi: 10.1002/ajmg.a.36162. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24039113
We report a family including 10 males and 1 female affected with profound non-specific intellectual disability (ID) which was linked to a 30-cM region extending from Xp11.21 (ALAS2) to Xq22.3 (COL4A5). ...Cognitive impairment, varying from borderline to profo …
We report a family including 10 males and 1 female affected with profound non-specific intellectual disability (ID) which was …
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Genet Med. 2022 Oct;24(10):2051-2064. doi: 10.1016/j.gim.2022.06.007. Epub 2022 Jul 14. Genet Med. 2022. PMID: 35833929 Free article.
This highlights the diagnostic relevance of ANKRD11 missense variants, but also poses diagnostic challenges because the KBG-associated phenotype may be mild and inherited pathogenic ANKRD11 (missense) variants are increasingly observed, warranting stringent variant classif …
This highlights the diagnostic relevance of ANKRD11 missense variants, but also poses diagnostic challenges because the KBG-associated pheno …
Language and behavior in children with Sotos syndrome.
Finegan JK, Cole TR, Kingwell E, Smith ML, Smith M, Sitarenios G. Finegan JK, et al. J Am Acad Child Adolesc Psychiatry. 1994 Nov-Dec;33(9):1307-15. doi: 10.1097/00004583-199411000-00013. J Am Acad Child Adolesc Psychiatry. 1994. PMID: 7995798
METHOD: Twenty-seven children with Sotos syndrome were compared with 20 children with overgrowth, intellectual disability, and facies not characteristic of Sotos syndrome. ...CONCLUSIONS: Assessment of language abilities revealed no specific languag …
METHOD: Twenty-seven children with Sotos syndrome were compared with 20 children with overgrowth, intellectual disability, and …
Three Japanese patients with 3p13 microdeletions involving FOXP1.
Yamamoto-Shimojima K, Okamoto N, Matsumura W, Okazaki T, Yamamoto T. Yamamoto-Shimojima K, et al. Brain Dev. 2019 Mar;41(3):257-262. doi: 10.1016/j.braindev.2018.10.016. Epub 2018 Nov 10. Brain Dev. 2019. PMID: 30424912
In addition, "square shaped face" commonly observed in all three patients may be a characteristic finding undescribed previously. From the obtained findings, "FOXP1-related intellectual disability syndrome" was considered to be clinically recognizable. …
In addition, "square shaped face" commonly observed in all three patients may be a characteristic finding undescribed previous …
Neurocognitive, behavioral and socio-adaptive functioning assessment in a case of Coffin-Siris syndrome: A holistic approach/perspective beyond the identification of the disorder.
Lohiya N, Chalipat S, Lohiya N, Malwade S. Lohiya N, et al. J Pediatr Rehabil Med. 2022;15(3):529-532. doi: 10.3233/PRM-210050. J Pediatr Rehabil Med. 2022. PMID: 35754295
PURPOSE: Coffin-Siris syndrome (CSS) is a rare genetic disorder characterized by the presence of particular facies, congenital malformations, intellectual developmental disorder, behavioral issues, and speech and language impair …
PURPOSE: Coffin-Siris syndrome (CSS) is a rare genetic disorder characterized by the presence of particular facies, congeni …
Characterizing the musical phenotype in individuals with Williams Syndrome.
Levitin DJ, Cole K, Chiles M, Lai Z, Lincoln A, Bellugi U. Levitin DJ, et al. Child Neuropsychol. 2004 Dec;10(4):223-47. doi: 10.1080/09297040490909288. Child Neuropsychol. 2004. PMID: 15621847
Williams Syndrome (WS), a neurodevelopmental genetic disorder, is characterized by peaks and valleys in mental function: substantial impairments in cognitive domains such as reasoning, arithmetic ability, and spatial cognition, alongside relatively preserved skills …
Williams Syndrome (WS), a neurodevelopmental genetic disorder, is characterized by peaks and valleys in mental function: substantial …
Featural versus configural face processing in a rare genetic disorder: Williams syndrome.
Isaac L, Lincoln A. Isaac L, et al. J Intellect Disabil Res. 2011 Nov;55(11):1034-42. doi: 10.1111/j.1365-2788.2011.01426.x. Epub 2011 May 10. J Intellect Disabil Res. 2011. PMID: 21554469
BACKGROUND: Williams syndrome (WMS) is a rare genetic disorder with an estimated prevalence of 1 in 20 000 live births. Among other characteristics, WMS has a distinctive cognitive profile with spared face processing and language skills that contrasts with …
BACKGROUND: Williams syndrome (WMS) is a rare genetic disorder with an estimated prevalence of 1 in 20 000 live births. Among other c …
Developmental profile and trajectory of neuropsychological skills in a child with Kabuki syndrome: implications for assessment of syndromes associated with intellectual disability.
Sanz JH, Lipkin P, Rosenbaum K, Mahone EM. Sanz JH, et al. Clin Neuropsychol. 2010 Oct;24(7):1181-92. doi: 10.1080/13854046.2010.506198. Clin Neuropsychol. 2010. PMID: 20812142
Kabuki syndrome (KS) is a rare genetic syndrome involving dysmorphic facial features,and reports of intellectual disability (ID). ...Examination of raw and age-corrected standard scores suggests that language-based skills developed appropriately …
Kabuki syndrome (KS) is a rare genetic syndrome involving dysmorphic facial features,and reports of intellectual disability …
del (9p) syndrome: proposed behavior phenotype.
Chilosi A, Battaglia A, Brizzolara D, Cipriani P, Pfanner L, Carey JC. Chilosi A, et al. Am J Med Genet. 2001 Apr 22;100(2):138-44. doi: 10.1002/ajmg.1230. Am J Med Genet. 2001. PMID: 11298375
We present three white female patients, age respectively 9 years 9 months, 14 years 6 months and 18 years at the time of the last observation, seen because of developmental delay/mental retardation, seizures and learning disabilities. ...Visuo-motor integration abil …
We present three white female patients, age respectively 9 years 9 months, 14 years 6 months and 18 years at the time of the last observa …
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Dunn P, et al. Am J Med Genet A. 2017 Mar;173(3):611-617. doi: 10.1002/ajmg.a.38069. Epub 2017 Jan 31. Am J Med Genet A. 2017. PMID: 28139025
Mutations in CASK cause X-linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia, optic atrophy, nystagmus, feeding difficulties, GI hypomotility, and seizures. ...From a cognitive and neuropsychological perspective, language skil …
Mutations in CASK cause X-linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia, optic atrophy, …
14 results