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Intellectual disability-craniofacial anomalies-cardiac defects syndrome, Arboleda-Tham syndrome, KAT6A syndrome, autosomal dominant intellectual disability 32, (obsolete) autosomal dominant mental retardation
508:
Millan F, Cho MT, Retterer K, Monaghan KG, Bai R, Vitazka P, et al. (July 2016). "Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder".
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458:"De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay"
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678:"Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay"
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629:"Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features"
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556:"KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants"
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Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs HA, et al. (March 2015).
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404:"Autosomal dominant intellectual disability craniofacial anomalies cardiac defects syndrome"
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Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
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Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
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Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, et al. (March 2015).
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Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, et al. (April 2019).
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Symptoms within people with the disorder vary, but they are generally the following:
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Lin YF, Lin TC, Kirby R, Weng HY, Liu YM, Niu DM, et al. (December 2020).
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which is characterized by multi-systemic symptoms primarily affecting the
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According to OMIM, 78 cases have been described in medical literature.
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Rare, only 78 cases have been described in medical literature.
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Diagnosis of the disorder is established by gene sequencing.
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This condition is caused by heterozygous mutations in the
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402:Dias, Patricia; Neves, Mariana, eds. (March 2021).
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604:"OMIM Entry - # 616268 - Arboleda-Tham Syndrome"
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510:American Journal of Medical Genetics. Part A
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682:Molecular Genetics and Metabolism Reports
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185:(which can sometimes last into adulthood)
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732:Syndromes with intellectual disability
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633:American Journal of Human Genetics
462:American Journal of Human Genetics
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66:with untreated cardiac defects
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280:Less common symptoms include
747:Autosomal dominant disorders
312:. These mutations are often
234:Persistent ductus arteriosus
737:Syndromes affecting the eye
694:10.1016/j.ymgmr.2020.100686
763:
645:10.1016/j.ajhg.2015.01.016
474:10.1016/j.ajhg.2015.01.017
572:10.1038/s41436-018-0259-2
224:Ventricular septal defect
165:Intellectual disabilities
433:"Arboleda-Tham syndrome"
742:Rare genetic syndromes
355:This section is empty.
288:, sleep disturbance,
560:Genetics in Medicine
522:10.1002/ajmg.a.37670
271:Bitemporal narrowing
229:Patent foramen ovale
219:Atrial septal defect
189:Feeding difficulties
178:developmental delays
151:Signs and symptoms
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316:, and are either
255:Refractory errors
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110:Poor if untreated
16:Medical condition
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357:You can help by
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294:viral infections
282:craniosynostosis
143:and post-natal
137:genetic disorder
91:Genetic mutation
42:Medical genetics
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183:Speech delays
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59:Complications
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611:. Retrieved
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413:. Retrieved
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381:
378:Epidemiology
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359:adding to it
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310:chromosome 8
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292:, recurrent
279:
275:Microcephaly
207:constipation
159:Intellectual
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132:
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201:Acid reflux
176:Widespread
145:development
71:Usual onset
27:Other names
726:Categories
688:: 100686.
613:2022-06-24
442:2022-06-24
415:2023-02-15
386:References
318:frameshift
265:Broad nose
246:Strabismus
195:Intestinal
135:is a rare
97:Prevention
366:July 2024
339:Treatment
331:Diagnosis
326:nonsense.
308:gene, in
251:Amblyopia
141:intellect
115:Frequency
106:Prognosis
37:Specialty
712:33318932
663:25728777
608:omim.org
590:30245513
538:23829096
530:27133397
492:25728775
409:Orphanet
322:missense
314:sporadic
290:epilepsy
205:Chronic
82:Lifelong
79:Duration
49:Symptoms
703:7723794
654:4375419
581:6634310
483:4375619
213:Cardiac
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324:, and
300:Causes
286:autism
260:Facial
240:Ocular
123:Deaths
87:Causes
534:S2CID
306:KAT6A
74:Birth
64:Death
708:PMID
659:PMID
586:PMID
526:PMID
488:PMID
100:None
698:PMC
690:doi
649:PMC
641:doi
576:PMC
568:doi
518:doi
514:170
478:PMC
470:doi
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546:^
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