427:. During the same year, H.M. Hittner described 10 children who had choanal atresia as well as coloboma, congenital heart defect, and hearing loss. Using both coloboma or choanal atresia and some of the other related characteristic malformations, R. A. Pagon first coined the acronym CHARGE in 1981 to emphasize that this cluster of associated malformations occurred together. It came to be recognised as a syndrome within the umbrella of the CHARGE association, a set of apparently random signs occurring together. Since the signs seen in CHARGE are caused by a genetic anomaly, its name was eventually changed to 'CHARGE syndrome'.
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The CHARGE Syndrome
Foundation, formally incorporated in 1993, is a US-based organization for individuals with CHARGE syndrome, families, researchers, and clinicians to further research and scientific knowledge about CHARGE Syndrome. The Foundation holds a biennial international conference that was
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CHARGE syndrome was formerly referred to as CHARGE association, which indicates a non-random pattern of congenital anomalies that occurs together more frequently than one would expect on the basis of chance, but for which a common cause has not been identified. Very few people with CHARGE will have
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Once the diagnosis is made based on clinical signs, it is important to investigate other body systems that may be involved. For example, if the diagnosis is made based on the abnormal appearance of the ears and developmental delay, it is important to check the child's hearing, vision, heart, nose,
377:, highlighted the use of prenatal ultrasound to detect CHARGE syndrome. Key findings indicated the difficulty in diagnosing CHARGE syndrome without genetic testing, as mutations in the CHD7 gene are not always listed in public databases. and predicted to be deleterious by CADD and MutationTaster.
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for CHARGE syndrome involves specific genetic testing for the CHD7 gene. The test is available at most major genetic testing laboratories. Insurance companies sometimes do not pay for such genetic tests, though this is changing rapidly as genetic testing is becoming standard across all aspects of
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Phenotypic variability further complicates diagnosis, with no clear correlation between mutation severity and clinical presentation. Trio-WES analysis confirmed a de novo mutation in the newborn, emphasizing the importance of early diagnosis for effective management. The study underscores the
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Children with CHARGE syndrome may have a number of life-threatening medical conditions; with advances in medical care, these children can survive and can thrive with the support of a multidisciplinary team of medical professionals. Therapies and education must take into consideration hearing
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Children with CHARGE syndrome will vary greatly in their abilities in the classroom: some may need little support, while some may require full-time support and individualized programs. Taking each of the various affected body systems into account is vital to the success of the child in the
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significance of early prenatal diagnosis through ultrasound examinations and specialized genetic testing. This approach facilitates timely interventions and enhances understanding of rare genetic conditions, improving diagnostic protocols for CHARGE syndrome and similar disorders.
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impairment, vision problems, and any others. Early intervention, such as occupational, speech-language, and physical therapy, to improve static posture, ambulation, and self-care skills is important. The intelligence of children with multiple health impairments, such as combined
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positively identifies nearly two thirds of children with CHARGE syndrome, diagnosis is still largely clinical. The following signs were originally identified in children with this syndrome, but are no longer used to make the diagnosis alone.
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and urogenital system. Ideally, every child newly diagnosed with CHARGE syndrome should have a complete evaluation by an ENT specialist, audiologist, ophthalmologist, pediatric cardiologist, developmental therapist, and pediatric urologist.
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261:, ENT specialist, ophthalmologist, endocrinologist, cardiologist, urologist, developmental specialist, radiologist, geneticist, physiotherapist, occupational therapist, speech therapist, or orthopedic specialist.
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238:) were found in 10 of 17 patients in the Netherlands, making CHARGE an official syndrome. A 2006 US study of 110 individuals with CHARGE syndrome showed that 60% of those tested had a mutation of the CHD7 gene.
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The incidence is estimated to range from 0.1 to 1.2 per 10,000 live births, though the true incidence is unknown. As of 2005, the highest prevalence was found in Canada and estimated at 1 in 8,500 live births.
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The diagnosis of CHARGE syndrome is often difficult, because it is rare. The syndrome spans many disciplines, and as such, the symptoms may be recognized by a pediatrician, family medicine physician,
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medicine. CHARGE syndrome is a clinical diagnosis, which means genetic testing is not required in order to make the diagnosis. Rather, the diagnosis can be made based on clinical features alone.
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An important step in dealing with abnormal behavior is understanding why it is occurring and helping the child learn more appropriate methods of communicating.
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Pagon RA, Graham JM, Zonana J, Yong SL (August 1981). "Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association".
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Hittner HM, Hirsch NJ, Kreh GM, Rudolph AJ (1979). "Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome".
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213:. These features are no longer used in making a diagnosis of CHARGE syndrome, but the name remains. About two thirds of cases are due to a
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mutation. CHARGE syndrome occurs only in 0.1–1.2 per 10,000 live births; as of 2009, it was the leading cause of congenital
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B.D. Hall first described the CHARGE association in a 1979 journal paper of about 17 children who had been born with
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Vissers LE, van
Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, et al. (September 2004).
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2007:
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Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, et al. (February 2006).
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574:"Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation"
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905:"An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study"
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140:"Lop ear" phenotype characteristic of a person with CHARGE syndrome, along with her
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533:"Mutations in a new member of the chromodomain gene family cause CHARGE syndrome"
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In 2010, a review of 379 clinically diagnosed cases of CHARGE syndrome, in which
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Hall BD (September 1979). "Choanal atresia and associated multiple anomalies".
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674:"Genetics: Diagnosis, Testing & Recurrence | Charge Syndrome Foundation"
189:"CHARGE" came into use for newborn children with the congenital features of
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Charge
Syndrome Foundation | A better world for people with CHARGE Syndrome
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Charge
Syndrome Foundation | A better world for people with CHARGE Syndrome
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Charge
Syndrome Foundation | A better world for people with CHARGE Syndrome
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Charge
Syndrome Foundation | A better world for people with CHARGE Syndrome
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Charge
Syndrome Foundation | A better world for people with CHARGE Syndrome
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504:"The 2008 National Child Count of Children and Youth who are Deaf-Blind"
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744:"Study Reveals How Fetal Ear Shape Could Signal Rare Genetic Condition"
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623:"Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome"
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mutation testing was undertaken found that 67% of cases were due to a
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led by Yu Liang from
Shijiazhuang Fourth Hospital and Sijie He from
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Issekutz KA, Graham JM, Prasad C, Smith IM, Blake KD (March 2005).
703:"CHARGE syndrome with early fetal ear abnormalities: A case report"
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and abnormally bowl-shaped and concave ears, known as "lop ears".
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Disorders of transcription and post transcriptional modification
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Zentner GE, Layman WS, Martin DM, Scacheri PC (March 2010).
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Liang Y, He S, Yang L, Li T, Zhao L, Sun CX (March 2024).
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Pervasive developmental disorder not otherwise specified
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100% of its known features. In 2004, mutations on the
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or urinary abnormalities, and ear abnormalities and
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1023:"Foundation History | Charge Syndrome Foundation"
989:Journal of Pediatric Ophthalmology and Strabismus
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909:American Journal of Medical Genetics. Part A
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627:American Journal of Medical Genetics. Part A
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446:Characteristics of syndromic ASD conditions
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1948:
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1757:Ritvo Autism and Asperger Diagnostic Scale
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1047:"Conferences | Charge Syndrome Foundation"
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1449:Avoidant/restrictive food intake disorder
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879:
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511:The National Consortium on Deaf-Blindness
106:Learn how and when to remove this message
1454:Attention deficit hyperactivity disorder
829:"Education | Charge Syndrome Foundation"
804:"Therapies | Charge Syndrome Foundation"
1640:Multiple complex developmental disorder
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1721:Autism Diagnostic Observation Schedule
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317:– Restricted growth and/or development
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852:Blake KD, Prasad C (September 2006).
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1471:Developmental coordination disorder
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1891:Oculopharyngeal muscular dystrophy
578:American Journal of Human Genetics
513:. 2009. p. 30. Archived from
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323:– Genital and/or urinary defects (
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2211:Bannayan–Riley–Ruvalcaba syndrome
1731:Gilliam Asperger's disorder scale
1549:Fetal valproate spectrum disorder
1321:Childhood disintegrative disorder
1067:
858:Orphanet Journal of Rare Diseases
1301:Pervasive developmental disorder
203:restricted growth or development
20:
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980:
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185:. First described in 1979, the
31:needs additional citations for
2018:Bonnet–Dechaume–Blanc syndrome
1752:Childhood Autism Spectrum Test
1074:The CHARGE Syndrome Foundation
768:
754:
750:. Shenzhen, China. 2 May 2024.
565:
524:
496:
259:oral and maxillofacial surgeon
1:
2427:Syndromes affecting the heart
2013:Sakati–Nyhan–Tisdale syndrome
1726:Childhood Autism Rating Scale
1574:PTEN hamartoma tumor syndrome
1464:obsessive–compulsive disorder
1396:Pathological demand avoidance
1280:Societal and cultural aspects
1001:10.3928/0191-3913-19790301-10
966:10.1016/S0022-3476(79)80513-2
762:"Genome Aggregation Database"
482:10.1016/S0022-3476(81)80454-4
451:
362:Screening other organ systems
2251:Tatton-Brown–Rahman syndrome
2221:Benign symmetric lipomatosis
397:
384:
252:
199:atresia of the nasal choanae
7:
2432:Syndromes affecting hearing
2422:Syndromes affecting the eye
2341:Branchio-oto-renal syndrome
2216:Beckwith–Wiedemann syndrome
1716:Autism Diagnostic Interview
1486:Sensory processing disorder
1351:Autism and LGBTQ identities
434:
224:
10:
2453:
2313:Zimmermann–Laband syndrome
2265:Laurence–Moon–Bardet–Biedl
2226:Klippel–Trénaunay syndrome
2176:Caudal regression syndrome
2151:Klippel–Trénaunay syndrome
2113:Smith–Lemli–Opitz syndrome
2083:Cornelia de Lange syndrome
1594:Tuberous sclerosis complex
1584:Smith–Lemli–Opitz syndrome
1559:MECP2 duplication syndrome
1539:Cornelia de Lange syndrome
1491:Global developmental delay
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2161:Rubinstein–Taybi syndrome
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2058:
1978:
1900:
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1514:22q11.2 deletion syndrome
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1082:
954:The Journal of Pediatrics
470:The Journal of Pediatrics
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2231:Neurofibromatosis type I
2118:Snyder–Robinson syndrome
2068:1q21.1 deletion syndrome
2008:Saethre–Chotzen syndrome
1747:Autism-spectrum quotient
1564:Neurofibromatosis type I
264:
2141:Adducted thumb syndrome
2103:Silver–Russell syndrome
1928:Retinitis pigmentosa 13
1916:Retinitis pigmentosa 11
1678:Lancet MMR autism fraud
1620:Critical autism studies
1519:22q13 deletion syndrome
1481:Intellectual disability
1431:Emotional dysregulation
1328:High-functioning autism
341:– Ear anomalies and/or
2277:Laurence–Moon syndrome
2073:Aarskog–Scott syndrome
2028:Baller–Gerold syndrome
1971:Congenital abnormality
1688:Rapid prompting method
1630:Double empathy problem
1615:Autism rights movement
871:10.1186/1750-1172-1-34
310:Atresia of the choanae
291:central nervous system
2272:Bardet–Biedl syndrome
2156:Nail–patella syndrome
2048:Pierre Robin sequence
1988:Acrocephalosyndactyly
1773:Autism-related topics
1337:Associated conditions
707:Clinical Case Reports
403:educational setting.
329:undescended testicles
2203:Overgrowth syndromes
1852:Chromatin remodeling
1778:Fictional characters
1506:Associated syndromes
922:10.1002/ajmg.a.30560
639:10.1002/ajmg.a.33323
431:first held in 1993.
40:improve this article
2191:VACTERL association
1655:Violence and autism
1441:Comorbid conditions
173:(formerly known as
2146:Holt–Oram syndrome
2038:Goldenhar syndrome
1998:Carpenter syndrome
1554:Fragile X syndrome
1361:Autistic catatonia
1164:External resources
175:CHARGE association
2417:Genetic syndromes
2404:
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2301:Feingold syndrome
2088:Dubowitz syndrome
2078:Cockayne syndrome
2003:Pfeiffer syndrome
1937:
1936:
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1709:Diagnostic scales
1599:Williams syndrome
1524:Angelman syndrome
1406:Special interests
1371:Autistic meltdown
1311:Asperger syndrome
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854:"CHARGE syndrome"
719:10.1002/ccr3.8670
441:List of syndromes
234:gene (located on
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120:Medical condition
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55:"CHARGE syndrome"
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2437:Syndromic autism
2385:Donohue syndrome
2361:Timothy syndrome
2241:Proteus syndrome
2236:Perlman syndrome
2098:Robinow syndrome
2043:Moebius syndrome
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1804:Sensory friendly
1740:Screening scales
1589:Timothy syndrome
1496:Verbal Dyspraxia
1459:Anxiety disorder
1391:Nonverbal autism
1366:Autistic masking
1356:Autistic burnout
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2373:Marfan syndrome
2357:Keutel syndrome
2345:CHARGE syndrome
2329:Fraser syndrome
2287:
2286:Combined/other,
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2260:
2256:Weaver syndrome
2197:
2127:
2123:Turner syndrome
2108:Seckel syndrome
2093:Noonan syndrome
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1974:
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1799:Autism-friendly
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1569:Noonan syndrome
1529:CHARGE syndrome
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1401:Savant syndrome
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425:choanal atresia
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355:Genetic testing
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350:Genetic testing
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1650:TEACCH program
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1625:Discrimination
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1306:Classic autism
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1275:Sex and gender
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1083:Classification
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1068:External links
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1038:
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995:(2): 122–128.
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633:(3): 674–686.
613:
590:10.1086/500273
584:(2): 303–314.
564:
550:10.1038/ng1407
543:(9): 955–957.
523:
520:on 2012-03-15.
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2060:Short stature
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1665:Controversies
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1579:Rett syndrome
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392:deafblindness
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301:Heart defects
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57: –
56:
52:
51:Find sources:
45:
41:
35:
34:
29:This article
27:
23:
18:
17:
2378:
2366:
2350:
2344:
2334:
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2306:
2294:
2166:Gastrulation
1980:Craniofacial
1921:
1909:
1902:RNA splicing
1884:
1865:
1859:
1528:
1255:Heritability
1245:Epidemiology
1171:
1147:
1136:
1125:
1110:
1095:
1054:. Retrieved
1050:
1041:
1030:. Retrieved
1026:
1017:
992:
988:
982:
957:
953:
947:
912:
908:
898:
861:
857:
847:
836:. Retrieved
832:
823:
812:. Retrieved
810:. 2016-05-31
807:
798:
784:
770:
756:
747:
713:(3): e8670.
710:
706:
682:. Retrieved
680:. 2016-06-20
677:
630:
626:
616:
581:
577:
567:
540:
536:
526:
515:the original
510:
498:
473:
469:
429:
422:
413:
410:Epidemiology
405:
401:
388:
379:
375:BGI Genomics
369:
365:
353:
338:
325:hypogonadism
320:
314:
305:
296:
278:
268:
256:
240:
236:Chromosome 8
228:
193:of the eye,
181:caused by a
177:) is a rare
174:
170:
169:
117:
102:
93:
83:
76:
69:
62:
50:
38:Please help
33:verification
30:
2288:known locus
2186:Sirenomelia
1683:MMR vaccine
1411:Infodumping
1386:Monotropism
1381:Late talker
1346:Alexithymia
1250:Epigenetics
748:BGI Insight
333:hypospadias
221:in the US.
2411:Categories
2181:Ectromelia
1693:Thiomersal
1635:Employment
1426:Echopraxia
1376:Hyperlexia
1149:DiseasesDB
1056:2021-12-09
1032:2021-12-09
838:2022-02-20
814:2022-02-20
684:2022-02-20
452:References
331:, besides
249:mutation.
66:newspapers
2390:Multiple
1973:syndromes
1698:Chelation
1421:Echolalia
1294:Diagnoses
1285:Therapies
1240:Diagnosis
1173:eMedicine
398:Education
385:Treatment
293:anomalies
269:Although
253:Diagnosis
150:Specialty
96:July 2022
2170:mesoderm
2033:Cyclopia
1476:Epilepsy
1416:Stimming
939:23647735
931:15637722
890:16959034
737:38505478
728:10948373
657:20186815
608:16400610
559:15300250
435:See also
343:deafness
283:Coloboma
225:Genetics
211:deafness
191:coloboma
179:syndrome
1783:Schools
1260:History
1178:ped/367
1143:D058747
881:1586184
648:2918278
599:1380237
490:6166737
419:History
285:of the
207:genital
187:acronym
80:scholar
2024:Other
1911:PRPF31
1886:PABPN1
1265:Memory
1235:Causes
1221:Autism
1132:214800
1121:759.89
1009:458518
1007:
974:469662
972:
937:
929:
888:
878:
864:: 34.
776:"CADD"
735:
725:
655:
645:
606:
596:
557:
488:
157:
82:
75:
68:
61:
53:
2133:Limbs
1923:PRPF8
1766:Lists
1154:32233
1106:Q87.8
935:S2CID
518:(PDF)
507:(PDF)
265:Signs
87:JSTOR
73:books
1861:CHD7
1228:Main
1138:MeSH
1127:OMIM
1116:9-CM
1005:PMID
970:PMID
927:PMID
913:133A
886:PMID
733:PMID
653:PMID
631:152A
604:PMID
555:PMID
486:PMID
247:CHD7
243:CHD7
232:CHD7
215:CHD7
59:news
1112:ICD
1097:ICD
997:doi
962:doi
917:doi
876:PMC
866:doi
723:PMC
715:doi
643:PMC
635:doi
594:PMC
586:doi
545:doi
478:doi
287:eye
42:by
2413::
2380:19
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1101:10
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1025:.
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993:16
991:.
968:.
958:95
956:.
933:.
925:.
911:.
907:.
884:.
874:.
860:.
856:.
831:.
806:.
746:.
731:.
721:.
711:12
709:.
705:.
693:^
676:.
665:^
651:.
641:.
629:.
625:.
602:.
592:.
582:78
580:.
576:.
553:.
541:36
539:.
535:.
509:.
484:.
474:99
472:.
460:^
327:,
308:–
299:–
289:,
281:–
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2383:(
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2327:(
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1963:e
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1914:(
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321:G
315:R
306:A
297:H
279:C
144:.
109:)
103:(
98:)
94:(
84:·
77:·
70:·
63:·
36:.
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
