40:
561:
unselfish/forgiving, 75% never go unnoticed in a group, and 75% are happy when others do well. Infants with
Williams syndrome make normal and frequent eye contact, and young children with Williams will often approach and hug strangers. People affected by Williams syndrome typically have high empathy, showing relative strength in reading people's eyes to gauge intentions, emotions, and mental states. The level of friendliness observed in people with Williams is often inappropriate for the social setting, however, and teens and adults with Williams syndrome often experience social isolation, frustration, and loneliness despite their clear desire to connect to other people.
508:
scores above this range have been reported in people with smaller genetic deletions. In particular, people with
Williams syndrome experience challenges in visual-motor skills and visuospatial construction. Most affected people are unable to spatially orient themselves and many experience difficulty when given a task that requires even the most basic visual problem-solving. Many adults with Williams syndrome cannot complete a simple six-piece puzzle designed for young children, for example. These visuospatial deficits may be related to damage to the dorsal cortical pathway for visual processing.
988:
described three new patients with the same presentation. This led to the syndrome's full original name, Williams-Beuren syndrome, which is still used in some medical publications. From 1964 to 1975, small research reports broadened medical knowledge of this syndrome's cardiovascular problems. Then in 1975, K. Jones and D. Smith produced a large-scale report on numerous patients with WS, ranging in age from infancy to adulthood, and described the behavioral and observable physical symptoms in greater detail than previously recorded.
975:
common than originally noted (about 6% of all genetic cases of developmental disability), researchers have begun to hypothesize a previous underdiagnosis of the syndrome. One suggested factor in the increase in epidemiological prevalence estimates is that a substantial minority of individuals with the genetic markers of WS lack the characteristic facial features or the diminished intelligence considered to be diagnostic of the syndrome, and often are not immediately recognized as having the syndrome.
565:
are very friendly to strangers and love meeting new people, they may have trouble interacting on a deeper level. 73–93% were reported as unreserved with strangers, 67% highly sensitive to rejection, 65% susceptible to teasing, and the statistic for exploitation and abuse was unavailable. There are external problems as well. 91–96% demonstrate inattention, 75% impulsivity, 59–71% hyperactivity, 46–74% tantrums, 32–60% disobedience, and 25–37% fighting and aggressive behavior.
258:
1161:
439:. Facial dysmorphies thought to be characteristic of the syndrome are also present early in development, as are heart murmurs. Research on the development of the syndrome suggests that congenital heart disease is typically present at an early age, often at the infant's first pediatric appointment. Heart problems in infancy often lead to the initial diagnosis of WS.
1012:
In a review of the symptoms and features of the syndrome, Laskari, Smith, and Graham emphasized that many family members of individuals with WS reject use of terminology such as "elfin", as well as descriptions of social symptoms as "cocktail party syndrome". Physicians, family members of individuals
950:
Behavioral treatments have been shown to be effective. In regard to social skills, it may be effective to channel their nature by teaching basic skills. Some of these are the appropriate way to approach someone, how and when to socialize in settings such as school or the workplace, and warning of the
442:
Developmental delays are present in most cases of WS, and include delay of language abilities and delayed motor-skill development. People with WS develop language abilities quite late relative to other children, with the child's first word often occurring as late as 3 years of age. Language abilities
426:
Increased volume and activation of the left auditory cortex has been observed in people with WS, which has been interpreted as a neural correlation of patients' rhythm propensity and fondness of music. Similar sizes of the auditory cortex have been previously reported only in professional musicians.
996:
The adjective "elfin" may have originated to describe the facial features of people with WS; before its scientific cause was understood, people believed that individuals with the syndrome, who have exceptionally charming and kind personalities, had extraordinary, even magical, powers. This has been
564:
While these children often come off as happy due to their sociable nature, often there are internal drawbacks to the way they act. 76–86% of these children were reported as believing that they either had few friends or problems with their friends. This is possibly due to the fact that although they
511:
Despite their physical and cognitive deficits, people with
Williams syndrome exhibit impressive social and verbal abilities. Williams patients can be highly verbal relative to their IQ. When children with Williams syndrome are asked to name an array of animals, they may well list a wild assortment
974:
Williams syndrome has historically been estimated to occur in roughly one in every 20,000 live births, but more recent epidemiological studies have placed the occurrence rate at closer to one in every 7,500 live births, a significantly larger prevalence. As increasing evidence suggests WS is more
954:
Perhaps the most effective treatment for those with WS is music. Those affected have shown relative strength in regards to music, albeit only in pitch and rhythm tasks. Not only do they show strength in the field, but also a particular fondness for it. Music may help with the internal and external
916:
confirmatory genetic test has been validated in epidemiological studies and has been demonstrated to be a more effective method of identifying WS than previous methods, which often relied on the presence of cardiovascular problems and facial features (which, while common, are not always present).
935:
No cure for
Williams syndrome has been found. Suggested treatments include avoidance of extra calcium and vitamin D, and treating high levels of blood calcium. Blood-vessel narrowing can be a significant health problem and is treated on an individual basis. Physical therapy is helpful to patients
507:
Furthermore, cognitive abilities (IQs) of people with WMS typically range from mild to moderate levels of intellectual disability. One study of 306 children with
Williams syndrome found IQ scores ranging from 40 to 112 with a mean of 69.32 (the mean IQ score of the general population is 100). IQ
458:
Williams syndrome is also marked by a delay in the development of motor skills. Infants with WS develop the ability to lift their heads and sit without support months later than typically developing children. These delays continue into childhood, where patients with WS are delayed in learning to
417:
of a person with
Williams syndrome has greater volume than the average person's (though it is smaller than average in childhood). In general, neuroimaging studies demonstrate that people with WS have diminished amygdala reactivity in response to socially frightening stimuli (such as disapproving
479:
symptoms often persist into adulthood, as well as cardiovascular problems. Adults are typically limited in their ability to live independently or work in competitive employment settings, but this developmental impairment is attributed more to psychological symptoms than physiological problems.
418:
faces), but demonstrate hyperreactivity in the amygdala when presented with nonsocial fear stimuli (such as frightening animals). This may partially account for the apparent absence of social inhibition observed in people with the syndrome, as well as the prevalence of anxious symptoms (but see
393:
Frontal-cerebellar pathways, involved in behavioral timing, are often abnormally developed in people with WS, which may be related to their deficits in coordination and execution of fine motor tasks such as drawing and writing. In addition, people with WS often exhibit gross motor difficulties,
409:
areas. The parietal-dorsal area handles visual processing that supports visual-spatial analysis of the environment, while the ventral is related to semantic recognition of visual stimuli, and the recognition of faces. Thus, people with WS are often able to visually identify and recognize whole
987:
and his colleagues, who wrote in 1961 of four patients with supravalvular aortic stenosis, mental disability, and facial features including a broad forehead, large chin, low-set, "drooping" cheeks, widely spaced eyes, and wide-set mouth. A year after this report, German physician A. J. Beuren
894:
According to the
Williams Syndrome Association, its diagnosis begins with the recognition of physical symptoms and markers, which is followed by a confirmatory genetic test. The physical signs that often indicate a suspected case of WS include puffiness around the eyes, a long philtrum, and a
459:
walk. In young children, the observed motor delay is around 5–6 months, though some research suggests that children with WS have a delay in development that becomes more extreme with age. Children with motor delays as a result of WS are particularly behind in the development of coordination,
919:
Reliance on facial features to identify WS may cause a misdiagnosis of the condition. Among the more reliable features suggestive of WS are congenital heart disease, periorbital fullness ("puffy" eyes), and the presence of a long, smooth philtrum. Less reliable signs of the syndrome include
915:
test, which examines chromosome 7 and probes for the existence of two copies of the elastin gene. Since 98-99% of individuals with WS lack half of the 7q11.23 region of chromosome 7, where the elastin gene is located, the presence of only one copy of the gene is a strong sign of WS. This
560:
Among the hallmark traits of people with
Williams syndrome is an apparent lack of social inhibition. Dykens and Rosner (1999) found that 100% of those with Williams syndrome were kind-spirited, 90% sought the company of others, 87% empathize with others' pain, 84% are caring, 83% are
951:
signs and dangers of exploitation. For phobias, cognitive-behavioral approaches, such as therapy, are the recommended treatments. One of the things to be careful of with this approach is to make sure that the patients' "charming" nature does not mask any underlying feelings.
899:
pattern in the iris. Physiological symptoms that often contribute to a WS diagnosis are cardiovascular problems, particularly aortic or pulmonary stenosis, and feeding disturbance in infants. Developmental delays are often taken as an initial sign of the syndrome, as well.
1754:
Van Strien, J. W.; Lagers-Van
Haselen, G. C.; Van Hagen, J. M.; De Coo, I. F. M.; Frens, M. A.; Van Der Geest, J. N. (2007). "Increased Prevalences of Left-handedness and Left-eye Sighting Dominance in People with Williams-Beuren Syndrome".
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Bellugi, U., Lichtenberger, L., Jones, W., Lai, Z., & George, M. S. (2000). I. The neurocognitive profile of
Williams Syndrome: a complex pattern of strengths and weaknesses. Journal of cognitive neuroscience, 12(Supplement 1), 7-29.
947:, objective hearing assessment, blood-pressure measurement, developmental and growth evaluation, orthopedic assessments on joints and muscle tone, and ongoing feeding and dietary assessments to manage constipation and urinary problems.
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for details on the relationship between the amygdala and fear response). Also, some evidence indicates that people with WS exhibit amygdalal hyperactivity when viewing happy facial expressions. They are talkative and eager to please.
552:
skills. The language used by people with Williams syndrome differs notably from unaffected populations, including people matched for IQ. People with Williams syndrome tend to use speech that is rich in emotional descriptors, high in
568:
In one experiment, a group of children with Williams syndrome showed no signs of racial bias, unlike children without the syndrome. They did show gender bias, however, to a similar degree to children without the syndrome.
936:
with joint stiffness and low muscle tone. Developmental and speech therapy can also help children and increase the success of their social interactions. Other treatments are based on a patient's particular symptoms.
320:
has been reported to occur in children, although no proof has been found of it occurring in adults; adults with WS have a higher risk of developing type-2 diabetes, with some cases apparent as young as 21 years old.
4456:
3885:
3870:
3358:
Morris, Colleen A. (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.).
466:
Adults and adolescents with Williams syndrome typically achieve a below-average height and weight, compared with unaffected populations. As people with WS age, they frequently develop joint limitations and
496:(high sensitivity to certain frequencies of sound). Compared with other children with delays, those with Williams syndrome display a significantly greater number of fears. 35% of these children met the
280:
Most people with WS are highly verbal relative to their intelligence, and are often very sociable, having what has been described as a "cocktail party"-type personality. People with Williams syndrome
882:, and perhaps other genes may help explain the characteristic difficulties with visual–spatial tasks. Additionally, some evidence shows that haploinsufficiency in several of these genes, including
1917:
Van Der Geest, J. N.; Lagers-Van Haselen, G. C.; Van Hagen, J. M.; Brenner, E.; Govaerts, L. C. P.; De Coo, I. F. M.; Frens, M. A. (2005). "Visual depth processing in Williams–Beuren syndrome".
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objects, and refer to them by name, but struggle with visuospatial construction (seeing an object as being composed of many smaller parts, and recreating it) and orienting themselves in space.
870:). Elastin insufficiency may also contribute to distinct facies, harsh or hoarse voice, hernias, and bladder diverticula often found in those with Williams syndrome. Haploinsufficiency in
1967:
Meyer-Lindenberg, Andreas; Mervis, Carolyn B.; Faith Berman, Karen (2006). "Neural mechanisms in Williams syndrome: A unique window to genetic influences on cognition and behaviour".
1215:
Martens, Marilee A.; Wilson, Sarah J.; Reutens, David C. (2008). "Research Review: Williams syndrome: A critical review of the cognitive, behavioral, and neuroanatomical phenotype".
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such as writing and drawing, response time, and strength and dexterity of the arms. Impaired motor ability persists (and possibly worsens) as children with WS reach adolescence.
241:. Surgery may be done to correct heart problems. Dietary changes or medications may be required for high blood calcium. The syndrome was first described in 1961 by New Zealander
924:
nostrils, a wide mouth, and an elongated neck. Even with significant clinical experience, reliably identifying Williams syndrome based on facial features alone is difficult.
1095:
Morris, CA; Pagon, RA; Adam, MP; Ardinger, HH; Wallace, SE; Amemiya, A; Bean, LJH; Bird, TD; Ledbetter, N; Mefford, HC; Smith, RJH; Stephens, K (2013). "Williams Syndrome".
4685:
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Morris, Colleen A.; Demsey, Susan A.; Leonard, Claire O.; Dilts, Constance; Blackburn, Brent L. (1988). "Natural history of Williams syndrome: Physical characteristics".
2053:
Carrasco, Ximena; Castillo, Silvia; Aravena, Teresa; Rothhammer, Paula; Aboitiz, Francisco (2005). "Williams syndrome: Pediatric, neurologic, and cognitive development".
544:, a far greater verbal array than would be expected of children with IQs in the 60s. Some other strengths that have been associated with Williams syndrome are auditory
3160:
413:
People with WS are often affable and hyperverbal, demonstrating the decreased inhibition ability that stems from dorsal-frontal deficits. Some studies suggest that the
265:
The most common symptoms of Williams syndrome are heart defects and unusual facial features. Other symptoms include failure to gain weight appropriately in infancy (
1623:
Gothelf, D.; Farber, N.; Raveh, E.; Apter, A.; Attias, J. (2006). "Hyperacusis in Williams syndrome: Characteristics and associated neuroaudiologic abnormalities".
4122:
2964:
Merla, Giuseppe; Howald, Cédric; Henrichsen, Charlotte N.; Lyle, Robert; Wyss, Carine; Zabot, Marie-Thérèse; Antonarakis, Stylianos E.; Reymond, Alexandre (2006).
3509:
2710:
Udwin, Orlee; Yule, William; Martin, Neil (1987). "Cognitive Abilities and Behavioural Characteristics of Children with Idiopathic Infantile Hypercalcaemia".
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definition of having a phobia as compared with 1–4.3% for those with other types of developmental delays. Williams syndrome is also strongly associated with
497:
179:
that affects many parts of the body. Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. Mild to moderate
966:
People affected by WS are supported by multiple organizations, including the Canadian Association for Williams Syndrome and the Williams Syndrome Registry.
390:, and left frontal cortical regions. This pattern is consistent with the visual-spatial disabilities and problems with behavioral timing often seen in WS.
5429:
3323:
Dykens, Elisabeth M.; Rosner, Beth A.; Ly, Tran; Sagun, Jaclyn (2005). "Music and Anxiety in Williams Syndrome: A Harmonious or Discordant Relationship?".
5409:
5405:
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recommends annual cardiology evaluations for individuals with WS. Other recommended assessments include ophthalmologic evaluations, an examination for
4589:
214:. Typically, this occurs as a random event during the formation of the egg or sperm from which a person develops. In a small number of cases, it is
4247:
2282:
Bruno, E; Rossi, N; ThĂĽer, O; CĂłrdoba, R; Alday, L. E. (2003). "Cardiovascular findings, and clinical course, in patients with Williams syndrome".
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Wong D, Ramachandra SS, Singh AK. Dental management of patient with Williams Syndrome - A case report. Contemp Clin Dent. 2015 Jul-Sep;6(3):418-20.
5471:
927:
This is particularly the case in individuals of non-white backgrounds, where typical WS facial features (such as full lips) are more prevalent.
2629:
Dykens, Elisabeth M.; Rosner, Beth A. (1999). "Refining Behavioral Phenotypes: Personality—Motivation in Williams and Prader-Willi Syndromes".
2143:"Genetic influences on sociability: Heightened amygdala reactivity and event-related responses to positive social stimuli in Williams syndrome"
3089:
Tassabehji, M; Metcalfe, K; Karmiloff-Smith, A; Carette, MJ; Grant, J; Dennis, N; Reardon, W; Splitt, M; Read, AP; Donnai, D (January 1999).
1307:
363:, due to inherent subnormal binocular visual function and cognitive deficits in visuospatial construction. People with WS have problems with
1868:
Olsen, R. K.; Kippenhan, J. S.; Japee, S.; Kohn, P.; Mervis, C. B.; Saad, Z. S.; Morris, C. A.; Meyer-Lindenberg, A.; Berman, K. F. (2009).
5456:
5212:
2872:
Einfeld, Stewart L.; Tonge, Bruce J.; Florio, Tony (1997). "Behavioral and Emotional Disturbance in Individuals with Williams Syndrome".
1521:
1054:
1389:
1250:
Lenhoff, Howard M.; Teele, Rita L.; Clarkson, Patricia M.; Berdon, Walter E. (2010). "John C. P. Williams of Williams-Beuren syndrome".
4563:
3182:
Lowery, M. C.; Morris, C. A.; Ewart, A; Brothman, L. J.; Zhu, X. L.; Leonard, C. O.; Carey, J. C.; Keating, M; Brothman, A. R. (1995).
435:
The earliest observable symptoms of WS include low birth weight, failure to thrive, trouble breastfeeding, nocturnal irritability, and
4255:
2966:"Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes"
4260:
501:
3223:
Tekendo-Ngongang, Cedrik; Dahoun, Sophie; Nguefack, Seraphin; Gimelli, Stefania; Sloan-Béna, Frédérique; Wonkam, Ambroise (2014).
4636:
4446:
4086:
1146:
904:
866:, is associated with connective-tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis and
5461:
4527:
4431:
3140:
1330:"Williams syndrome as a model for elucidation of the pathway genes - the brain - cognitive functions: genetics and epigenetics"
1025:
886:, may contribute to the unique behavioral characteristics, learning disabilities, and other cognitive difficulties seen in WS.
3572:"Conceptualizing neurodevelopmental disorders through a mechanistic understanding of fragile X syndrome and Williams syndrome"
3280:
Committee On, Genetics (2001). "American Academy of Pediatrics: Health care supervision for children with Williams syndrome".
1419:
Lashkari, A.; Smith, A. K.; Graham, J. M. (1999). "Williams-Beuren Syndrome: An Update and Review for the Primary Physician".
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3768:
3491:
3168:
2596:
2021:
1607:
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1192:
405:
Williams syndrome is also noteworthy for exhibiting abnormalities in the parietal-dorsal areas of the neocortex, but not the
4537:
4081:
2602:
5325:
4277:
3900:
3374:
2539:
Kaplan, P.; Wang, P. P.; Francke, U. (2001). "Williams (Williams Beuren) Syndrome: A Distinct Neurobehavioral Disorder".
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5315:
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340:. People with WS can also tend to demonstrate a love of music, and they appear significantly more likely to possess
73:
Facial changes including underdeveloped chin structure, intellectual disability, overly friendly nature, short height
3539:
955:
anxiety with which these people are more likely to be afflicted. Notably, the typical person processes music in the
4898:
4107:
4018:
3506:
3225:"Challenges in Clinical Diagnosis of Williams-Beuren Syndrome in Sub-Saharan Africans: Case Reports from Cameroon"
5297:
5240:
4830:
2664:
Tager-Flusberg, H; Sullivan, K (2000). "A componential view of theory of mind: Evidence from Williams syndrome".
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2642:
5291:
5230:
5168:
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3336:
3184:"Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients"
2325:
Tsai, Sen-Wei; Wu, Shyi-Kuen; Liou, Ying-Ming; Shu, San-Ging (2008). "Early development in Williams syndrome".
2191:
940:
2499:
Mervis, Carolyn B.; Becerra, Angela M. (2007). "Language and communicative development in Williams syndrome".
1833:
Olitsky, S. E.; Sadler, L. S.; Reynolds, J. D. (1997). "Subnormal binocular vision in the Williams syndrome".
963:. Those with WS have reduced activation in these areas, but an increase in the right amygdala and cerebellum.
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4532:
4441:
4380:
4202:
3847:
3091:"Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes"
297:
196:
2790:"Personality characteristics and behaviour problems in individuals of different ages with Williams syndrome"
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5182:
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4814:
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If a physician suspects a case of WS, the diagnosis is confirmed using one of two possible genetic tests:
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4522:
4292:
4157:
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Karmiloff-Smith, A.; d'Souza, D.; Dekker, T. M.; Van Herwegen, J.; Xu, F.; Rodic, M.; Ansari, D. (2012).
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Blomberg, S; Rosander, M; Andersson, G (2006). "Fears, hyperacusis and musicality in Williams syndrome".
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and related psychological symptoms such as poor concentration, hyperactivity, and social disinhibition.
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4870:
4866:
4400:
4365:
4345:
4297:
2094:"Defining the social phenotype in Williams syndrome: A model for linking gene, the brain, and behavior"
333:
234:
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Udwin, O (1990). "A survey of adults with Williams syndrome and idiopathic infantile hypercalcaemia".
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Because of missing multiple genes, many effects on the brain are seen, including abnormalities in the
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5339:
5301:
5100:
4935:
4479:
4320:
4212:
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2225:"Leftward Lateralization of Auditory Cortex Underlies Holistic Sound Perception in Williams Syndrome"
39:
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3911:
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867:
448:
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4237:
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Howlin, P; Davies, M; Udwin, O (1998). "Cognitive functioning in adults with Williams syndrome".
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is less than that of the general population, mostly due to the increased rates of heart disease.
191:, an openness to engaging with other people, and a happy disposition. Medical issues with teeth,
180:
78:
3388:
Stromme, P.; Bjomstad, P. G.; Ramstad, K. (2002). "Prevalence Estimation of Williams Syndrome".
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Johnson, Liane B.; Comeau, Michel; Clarke, Kevin D. (2001). "Hyperacusis in Williams Syndrome".
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Kitagawa, Hirochika; Fujiki, Ryoji; Yoshimura, Kimihiro; Oya, Hiroyuki; Kato, Shigeaki (2011).
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such as drawing. Verbal skills are relatively unaffected. Many people with WS have an outgoing
119:
110:
3951:
3481:
2446:
Dykens, Elisabeth M. (2003). "Anxiety, Fears, and Phobias in Persons with Williams Syndrome".
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367:, but this is related to difficulty in dealing with complex spatial relationships rather than
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557:(exaggerated rhythm and emotional intensity), and features unusual terms and strange idioms.
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5156:
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4011:
3711:"Genes, language, and the nature of scientific explanations: The case of Williams syndrome"
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3517:
3015:"Williams-Beuren syndrome: Determination of deletion size using quantitative real-time PCR"
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with WS syndrome, and WS associations alike have called for the curtailment of such terms.
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8:
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3615:"Genetic and environmental vulnerabilities in children with neurodevelopmental disorders"
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207:
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2240:
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1716:
1703:
Sacks, O.; Schlaug, G.; Jancke, L.; Huang, Y.; Steinmetz, H. (1995). "Musical ability".
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1992:
1942:
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Kapp, M. E.; von Noorden, G. K.; Jenkins, R (1995). "Strabismus in Williams syndrome".
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manner. The different characteristic features have been linked to the loss of specific
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Genetic disorder characterized by abnormal facial features and intellectual disability
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Neuropsychological Assessment and Intervention for Childhood and Adolescent Disorders
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Ophthalmologic issues are common in WS. Up to 75% of subjects in some studies have
300:. Other symptoms may include gastrointestinal problems, such as severe or prolonged
245:. Williams syndrome affects between one in 20,000 and one in 7,500 people at birth.
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3397:
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3289:
3252:
3236:
3195:
3110:
3102:
3063:
3026:
2985:
2977:
2928:
2881:
2846:
2801:
2754:
2719:
2693:
2673:
2638:
2548:
2508:
2455:
2412:
2377:
2334:
2291:
2254:
2244:
2162:
2158:
2154:
2113:
2105:
2089:
2062:
2013:
The neuroscience of human relationships: attachment and the developing social brain
1996:
1976:
1926:
1889:
1881:
1842:
1807:
1764:
1720:
1662:
1642:
1493:
1475:
1428:
1349:
1341:
1259:
1224:
1006:
368:
349:
176:
57:
2459:
1946:
1846:
5400:
4989:
4605:
4375:
4335:
4207:
4004:
3916:
3726:
3587:
3513:
3144:
2586:
2249:
2011:
1328:
Nikitina, EA; Medvedeva, AV; Zakharov, GA; Savvateeva-Popova, EV (January 2014).
944:
549:
345:
246:
227:
144:
115:
5491:
5074:
5040:
5035:
4710:
4451:
4340:
4112:
3570:
Fung, Lawrence K.; Quintin, Eve-Marie; Haas, Brian W.; Reiss, Allan L. (2012).
3401:
2909:"Absence of racial, but not gender, stereotyping in Williams syndrome children"
2552:
2416:
2223:
Wengenroth, Martina; Blatow, Maria; Bendszus, Martin; Schneider, Peter (2010).
1916:
1432:
1302:
341:
337:
317:
305:
192:
83:
3973:
3879:
3810:
3793:
3483:
Nursery Realms: Children in the Worlds of Science Fiction, Fantasy, and Horror
3360:
2933:
2908:
2295:
2109:
1930:
1768:
1464:"Williams syndrome and its cognitive profile: the importance of eye movements"
1263:
5450:
5269:
5069:
5030:
5025:
4953:
4939:
4915:
4903:
4891:
4879:
4859:
4764:
4742:
4737:
4715:
4385:
4350:
3927:
3692:
3675:
3248:
3155:
3153:
2582:
1489:
1165:
476:
395:
387:
200:
87:
3639:
3612:
3293:
3067:
2850:
1724:
896:
312:(bed wetting) and urinary difficulties, dental irregularities and defective
5064:
4971:
4967:
4847:
4835:
4819:
4807:
4797:
4700:
4621:
3744:
3701:
3666:
3605:
3466:
3409:
3370:
3344:
3301:
3266:
3075:
3040:
2999:
2942:
2685:
2650:
2560:
2520:
2467:
2424:
2346:
2303:
2268:
2176:
2127:
2074:
1988:
1938:
1903:
1885:
1776:
1753:
1689:
1654:
1507:
1440:
1363:
1271:
1236:
1104:
819:
541:
472:
313:
293:
211:
3209:
3150:
3124:
3031:
3014:
2893:
2858:
2815:
2766:
2731:
2389:
1854:
1819:
1732:
1327:
226:. The diagnosis is typically suspected based on symptoms and confirmed by
5086:
5057:
5052:
4949:
4217:
4192:
4187:
4152:
3968:
3946:
3833:
3531:
3448:
1385:
493:
329:
325:
188:
3648:
3088:
2907:
Santos, Andreia; Meyer-Lindenberg, Andreas; Deruelle, Christine (2010).
1591:
1480:
419:
257:
5206:
5202:
5008:
4754:
4732:
4722:
4232:
4182:
3224:
2512:
2361:
2088:
Järvinen-Pasley, Anna; Bellugi, Ursula; Reilly, Judy; Mills, Debra L.;
921:
468:
383:
356:
281:
61:
3862:
3240:
2141:
Haas, B. W.; Mills, D; Yam, A; Hoeft, F; Bellugi, U; Reiss, A (2009).
488:
People with Williams syndrome report higher anxiety levels as well as
5047:
5003:
4695:
4690:
4227:
3957:
3761:
The Boy Who Loved Too Much: A True Story of Pathological Friendliness
3222:
3054:
Francke, U. (1999). "Williams-Beuren syndrome:genes and mechanisms".
452:
444:
399:
360:
270:
206:
Williams syndrome is caused by a genetic abnormality, specifically a
138:
1980:
1870:"Retinotopically defined primary visual cortex in Williams syndrome"
5163:
5113:
5109:
4981:
4660:
4282:
4222:
3979:
3106:
2981:
846:
818:
of genetic material from the chromosomal region 7q11.23. This is a
660:
529:
414:
274:
215:
2839:
Journal of Child Psychology and Psychiatry, and Allied Disciplines
2501:
Mental Retardation and Developmental Disabilities Research Reviews
2048:
2046:
2044:
2042:
2040:
1966:
1181:
Riccio, Cynthia A.; Sullivan, Jeremy R.; Cohen, Morris J. (2010).
856:
are among the genes typically deleted. Haploinsufficiency for the
443:
are often observed to be deficient until adolescence, in terms of
394:
including trouble walking downstairs, overactive motor reflexes (
5216:
4999:
4672:
3826:
Phil Viardo (Director); Callie Truelove (Self) (September 2023).
2222:
2087:
2052:
1164:
This article incorporates text from this source, which is in the
863:
858:
834:
780:
773:
766:
759:
632:
525:
521:
406:
238:
3905:
1005:, and other forms of the 'good people' or 'wee folk' present in
261:
Several people with characteristics common of Williams Syndrome.
4027:
3874:
3799:
3381:
2037:
742:
489:
183:
is observed in people with WS, with particular challenges with
2906:
1040:
team, featured in the US TV series and film of the same name.
5305:
5244:
5220:
5150:
3816:
1595:
Williams-Beuren Syndrome: Research, Evaluation, and Treatment
1002:
852:
840:
828:
730:
709:
688:
674:
653:
646:
625:
618:
611:
604:
592:
513:
316:, and hormone problems, the most common being hypercalcemia.
301:
223:
3812:
The Mayor: A Chronicle of Williams Syndrome, with Josh Duffy
5351:
5343:
5287:
5273:
5248:
5176:
5146:
5136:
2886:
10.1352/0895-8017(1997)102<0045:BAEDII>2.0.CO;2
2643:
10.1352/0895-8017(1999)104<0158:RBPPIW>2.0.CO;2
723:
702:
695:
681:
667:
639:
537:
3673:
3337:
10.1352/0895-8017(2005)110[346:MAAIWS]2.0.CO;2
1414:
1412:
1410:
1408:
1406:
1249:
292:
People with WS experience many cardiac problems, commonly
273:. People with WS tend to have widely spaced teeth, a long
5132:
3996:
3181:
2963:
2534:
2532:
2530:
2402:
998:
533:
4123:
Pervasive developmental disorder not otherwise specified
3424:
2367:
1867:
1702:
1622:
1403:
1094:
862:
gene, which codes for the extracellular matrix protein
3387:
2663:
2527:
2281:
1962:
1960:
1958:
1956:
1797:
398:), and hyperactive, involuntary movement of the eyes (
210:
of about 27 genes from the long arm of one of the two
3676:"Williams syndrome is an epigenome-regulator disease"
3175:
1832:
1592:
Morris, Colleen; Lenhoff, Howard; Wang, Paul (2006).
1554:
296:
and the narrowing of major blood vessels, as well as
3852:
3569:
2588:
The Language Instinct: How the Mind Creates Language
1757:
Journal of Clinical and Experimental Neuropsychology
1587:
1585:
1214:
3365:. Seattle (WA): University of Washington, Seattle.
3322:
1953:
1675:
1548:
1418:
1180:
3138:"Williams syndrome – Genetics Home Reference"
2871:
2492:
2836:
2538:
2140:
1835:Journal of Pediatric Ophthalmology and Strabismus
1582:
233:Interventions to support people with WS includes
5448:
3619:Proceedings of the National Academy of Sciences
3479:
3167:. Williams Syndrome Association. Archived from
3012:
2709:
2199:Raymond C. Phillips Research and Education Unit
2092:; Reiss, Allan L.; Korenberg, Julie R. (2008).
3708:
3480:Westfahl, Gary; Slusser, George Edgar (1999).
3147:. The U.S. National Library of Medicine. 2010.
2624:
2622:
2620:
826:expression of the 25–27 genes in this region.
5391:46,XX testicular disorders of sex development
4637:
4012:
2705:
2703:
2498:
2324:
997:proposed to be the origin of the folklore of
284:on the eyes of others in social engagements.
4651:
3486:. University of Georgia Press. p. 153.
3279:
3047:
3013:Schubert, Cornelia; Laccone, Franco (2006).
3006:
2957:
2794:Developmental Medicine & Child Neurology
2747:Developmental Medicine & Child Neurology
2628:
2003:
1747:
1461:
1020:, a Canadian actress and singer who won the
5213:Acute myeloblastic leukemia with maturation
3507:"Gabrielle director achieves perfect pitch"
3437:American Journal of Medical Genetics Part C
3019:International Journal of Molecular Medicine
2787:
2617:
2009:
1696:
1598:. Johns Hopkins University Press. pp.
1468:Psychology Research and Behavior Management
1055:Characteristics of syndromic ASD conditions
483:
4644:
4630:
4564:Ritvo Autism and Asperger Diagnostic Scale
4019:
4005:
3709:Musolino, Julien; Landau, Barbara (2012).
2712:Journal of Child Psychology and Psychiatry
2700:
2575:
1217:Journal of Child Psychology and Psychiatry
1137:Reference, Genetics Home (December 2014).
1090:
492:development, which may be associated with
336:, but this may be due to a malfunctioning
38:
5477:Syndromes with craniofacial abnormalities
4256:Avoidant/restrictive food intake disorder
3734:
3691:
3656:
3638:
3595:
3456:
3256:
3199:
3114:
3030:
2989:
2932:
2805:
2258:
2248:
2189:
2166:
2117:
1893:
1636:
1497:
1479:
1375:
1373:
1353:
1291:
1289:
1210:
1208:
1206:
1204:
1176:
1174:
1136:
1132:
1130:
1128:
1126:
1124:
1122:
1120:
1118:
1116:
1114:
1088:
1086:
1084:
1082:
1080:
1078:
1076:
1074:
1072:
1070:
983:Williams syndrome was first described by
4261:Attention deficit hyperactivity disorder
2581:
2190:Eaton, Will; Sack, Brandon (July 2004).
1561:. John Wiley and Sons. pp. 909–23.
1555:Cassidy SB; Allanson JE (5 April 2010).
1034:. Another is Jeremy Vest, member of the
1028:in 2014 for her performance in the film
1016:One notable person with the syndrome is
502:attention deficit hyperactivity disorder
256:
4447:Multiple complex developmental disorder
3053:
471:, or abnormally increased muscle tone.
5472:Syndromes affecting the nervous system
5449:
4528:Autism Diagnostic Observation Schedule
3758:
3430:
3357:
3325:American Journal on Mental Retardation
2970:The American Journal of Human Genetics
2874:American Journal on Mental Retardation
2631:American Journal on Mental Retardation
2445:
2405:Research in Developmental Disabilities
1379:
1370:
1286:
1201:
1187:. John Wiley & Sons. p. 400.
1171:
1111:
1067:
991:
4625:
4000:
3848:GeneReview entry on Williams syndrome
2744:
1321:
1295:
252:
47:An adult male with Williams syndrome.
3798:(Documentary) (in Canadian French).
1149:from the original on 20 January 2017
359:(ocular misalignment), particularly
5326:Desmoplastic small-round-cell tumor
4278:Developmental coordination disorder
3809:Jake Jakubowski (Director) (2022).
2605:from the original on 1 January 2014
2067:10.1016/j.pediatrneurol.2004.09.013
13:
5457:Autosomal monosomies and deletions
3558:
3188:American Journal of Human Genetics
3095:American Journal of Human Genetics
2807:10.1111/j.1469-8749.1997.tb07481.x
2759:10.1111/j.1469-8749.1990.tb16912.x
2724:10.1111/j.1469-7610.1987.tb00212.x
2482:
1647:10.1212/01.wnl.0000196643.35395.5f
14:
5503:
4538:Gilliam Asperger's disorder scale
4356:Fetal valproate spectrum disorder
4128:Childhood disintegrative disorder
3841:
3433:"Introduction: Williams syndrome"
1800:American Journal of Ophthalmology
475:, gastrointestinal problems, and
377:
216:inherited from an affected parent
4899:22q11.2 distal deletion syndrome
4108:Pervasive developmental disorder
3542:from the original on 10 May 2016
3377:from the original on 2017-01-18.
2339:10.1111/j.1442-200X.2008.02563.x
1229:10.1111/j.1469-7610.2008.01887.x
1159:
868:supravalvular pulmonary stenosis
277:, and a flattened nasal bridge.
5298:Dermatofibrosarcoma protuberans
5241:Acute megakaryoblastic leukemia
5169:Anaplastic large-cell lymphoma
4831:Chromosome 5q deletion syndrome
3524:
3500:
3473:
3351:
3316:
3273:
3216:
3131:
3082:
2900:
2865:
2830:
2781:
2738:
2657:
2439:
2396:
2318:
2275:
2216:
2183:
2134:
2098:Development and Psychopathology
2081:
2010:Cozolino LJ (17 October 2006).
1910:
1861:
1826:
1791:
1669:
1616:
1558:Management of Genetic Syndromes
1539:
1514:
1462:Van Herwegen, Jo (2015-06-03).
1455:
1392:from the original on 2011-12-01
1346:10.32607/20758251-2014-6-1-9-22
1310:from the original on 2008-12-11
969:
4559:Childhood Autism Spectrum Test
3161:"Diagnosing Williams Syndrome"
2159:10.1523/JNEUROSCI.5324-08.2009
1243:
941:American Academy of Pediatrics
430:
344:. Also, higher prevalences of
33:Williams–Beuren syndrome (WBS)
1:
5462:Syndromes affecting the heart
5021:Klinefelter syndrome (47,XXY)
4786:1q21.1 copy number variations
4533:Childhood Autism Rating Scale
4381:PTEN hamartoma tumor syndrome
4271:obsessive–compulsive disorder
4203:Pathological demand avoidance
4087:Societal and cultural aspects
2678:10.1016/s0010-0277(00)00069-x
2591:. HarperCollins. p. 53.
2460:10.1080/87565641.2003.9651896
2448:Developmental Neuropsychology
2382:10.1016/s0022-3476(88)80272-5
1847:10.3928/0191-3913-19970101-12
1812:10.1016/s0002-9394(14)71180-8
1678:The Journal of Otolaryngology
1060:
298:supravalvular aortic stenosis
197:supravalvular aortic stenosis
5227:Acute promyelocytic leukemia
5183:Acute lymphoblastic leukemia
4875:17q12 microdeletion syndrome
4750:22q11.2 duplication syndrome
4728:16p11.2 duplication syndrome
3727:10.1080/02643294.2012.702103
3588:10.1097/WCO.0b013e328351823c
3576:Current Opinion in Neurology
2788:Gosch, A; Pankau, R (1997).
2250:10.1371/journal.pone.0012326
930:
889:
455:, though not in vocabulary.
7:
4794:1q21.1 duplication syndrome
4681:1q21.1 duplication syndrome
4523:Autism Diagnostic Interview
4293:Sensory processing disorder
4158:Autism and LGBTQ identities
3563:
3431:Morris, Colleen A. (2010).
2016:. Norton. pp. 289–91.
1969:Nature Reviews Neuroscience
1919:Experimental Brain Research
1296:Dobbs, David (2007-07-08).
1043:
822:deletion, which results in
287:
10:
5508:
4401:Tuberous sclerosis complex
4391:Smith–Lemli–Opitz syndrome
4366:MECP2 duplication syndrome
4346:Cornelia de Lange syndrome
4298:Global developmental delay
4026:
3402:10.1177/088307380201700406
3390:Journal of Child Neurology
3165:Guide to Williams Syndrome
2553:10.1177/088307380101600305
2541:Journal of Child Neurology
2417:10.1016/j.ridd.2005.09.002
1433:10.1177/000992289903800401
978:
814:caused by the spontaneous
334:noise-induced hearing loss
324:People with WS often have
235:special education programs
5467:Syndromes affecting teeth
5369:
5340:Alveolar rhabdomyosarcoma
5262:
5191:
5121:
5108:
5099:
5075:XYYYY syndrome (49,XYYYY)
5041:XXXXY syndrome (49,XXXXY)
5036:XXXYY syndrome (49,XXXYY)
4998:
4980:
4966:
4775:
4668:
4659:
4598:
4572:
4546:
4515:
4480:Facilitated communication
4470:
4414:
4321:22q11.2 deletion syndrome
4311:
4246:
4143:
4100:
4034:
3937:
3856:
3759:Latson, Jennifer (2017).
3715:Cognitive Neuropsychology
2934:10.1016/j.cub.2010.02.009
2370:The Journal of Pediatrics
2296:10.1017/S1047951103001124
2110:10.1017/S0954579408000011
1931:10.1007/s00221-005-2355-1
1769:10.1080/13803390490919119
1380:Jasmin, L. (2009-10-14).
1264:10.1007/s00247-010-1909-y
154:1 in 7,500 to 1 in 20,000
150:
137:
129:
109:
101:
93:
77:
67:
51:
46:
37:
29:
24:
4815:Wolf–Hirschhorn syndrome
4790:1q21.1 deletion syndrome
4653:Chromosome abnormalities
4554:Autism-spectrum quotient
4371:Neurofibromatosis type I
3778:
3763:. Simon & Schuster.
3752:
3693:10.1507/endocrj.k10e-393
3512:9 September 2017 at the
3056:Human Molecular Genetics
2327:Pediatrics International
1524:. CHD-UK. Archived from
572:
484:Social and psychological
169:Williams–Beuren syndrome
133:Various types of therapy
5199:Philadelphia chromosome
5070:XYYY syndrome (48,XYYY)
5031:XXXY syndrome (48,XXXY)
5026:XXYY syndrome (48,XXYY)
4911:22q13 deletion syndrome
4686:2q31.1 microduplication
4485:Lancet MMR autism fraud
4427:Critical autism studies
4326:22q13 deletion syndrome
4288:Intellectual disability
4238:Emotional dysregulation
4135:High-functioning autism
3836:: Former Prodigy Media.
3790:Gabrielle Marion-Rivard
3640:10.1073/pnas.1121087109
3294:10.1542/peds.107.5.1192
2851:10.1111/1469-7610.00312
2284:Cardiology in the Young
2147:Journal of Neuroscience
1725:10.1126/science.7732360
1143:Genetics Home Reference
1018:Gabrielle Marion-Rivard
810:Williams syndrome is a
578:Williams syndrome genes
512:of creatures such as a
437:gastroesophageal reflux
181:intellectual disability
5058:Pentasomy X (49,XXXXX)
4990:Turner syndrome (45,X)
4871:Smith–Magenis syndrome
4867:Miller–Dieker syndrome
4802:1p36 deletion syndrome
4495:Rapid prompting method
4437:Double empathy problem
4422:Autism rights movement
3229:Molecular Syndromology
1298:"The Gregarious Brain"
812:microdeletion syndrome
807:
262:
120:fetal alcohol syndrome
111:Differential diagnosis
5065:XYY syndrome (47,XYY)
5053:Tetrasomy X (48,XXXX)
4936:Prader–Willi syndrome
4580:Autism-related topics
4144:Associated conditions
3068:10.1093/hmg/8.10.1947
3032:10.3892/ijmm.18.5.799
1022:Canadian Screen Award
580:
304:, abdominal pain and
260:
237:and various types of
5157:Mantle cell lymphoma
4827:Cri du chat syndrome
4585:Fictional characters
4313:Associated syndromes
3625:(Suppl 2): 17261–5.
3518:The Georgia Straight
3449:10.1002/ajmg.c.30266
2585:(4 September 2007).
2203:Gainesville, Florida
1886:10.1093/brain/awn362
905:Micro-array analysis
185:visual spatial tasks
5143:Follicular lymphoma
4462:Violence and autism
4248:Comorbid conditions
3631:2012PNAS..109S7261K
2925:2010CBio...20.R307S
2241:2010PLoSO...512326W
2192:"Williams Syndrome"
2055:Pediatric Neurology
1717:1995Sci...268..621S
1522:"Williams Syndrome"
1481:10.2147/PRBM.S63474
1421:Clinical Pediatrics
1382:"Williams syndrome"
1252:Pediatric Radiology
1139:"Williams syndrome"
992:Society and culture
243:John C. P. Williams
5382:Uniparental disomy
5377:Fragile X syndrome
5312:Myxoid liposarcoma
5164:t(11 CCND1:14 IGH)
5048:Trisomy X (47,XXX)
4926:genomic imprinting
4706:Distal trisomy 10q
4361:Fragile X syndrome
4168:Autistic catatonia
3938:External resources
3829:Truelove: The Film
3819:: DMJ Productions.
3786:Louise Archambault
3521:, 24 January 2014.
3143:2010-01-22 at the
2513:10.1002/mrdd.20140
550:facial recognition
350:left-eye dominance
332:, which resembles
310:nocturnal enuresis
263:
253:Signs and symptoms
220:autosomal dominant
201:high blood calcium
199:), and periods of
88:high blood calcium
5444:
5443:
5396:Marker chromosome
5365:
5364:
5258:
5257:
5095:
5094:
4962:
4961:
4932:Angelman syndrome
4887:DiGeorge syndrome
4855:Jacobsen syndrome
4843:Williams syndrome
4619:
4618:
4516:Diagnostic scales
4406:Williams syndrome
4331:Angelman syndrome
4213:Special interests
4178:Autistic meltdown
4118:Asperger syndrome
3994:
3993:
3974:Williams Syndrome
3770:978-1-4767-7404-6
3680:Endocrine Journal
3493:978-0-8203-2144-8
3362:Williams Syndrome
3241:10.1159/000369421
2598:978-0-06-133646-1
2090:Galaburda, Albert
2023:978-0-393-70454-9
1609:978-0-8018-8212-8
1568:978-0-470-19141-5
1194:978-0-470-57033-3
1050:List of syndromes
985:J. C. P. Williams
957:superior temporal
824:haploinsufficient
546:short-term memory
518:saber-toothed cat
461:fine motor skills
365:visual processing
267:failure to thrive
161:Williams syndrome
158:
157:
124:DiGeorge syndrome
25:Williams syndrome
19:Medical condition
5499:
5482:Syndromic autism
5387:XX male syndrome
5284:Synovial sarcoma
5161:Multiple myeloma
5129:Burkitt lymphoma
5119:
5118:
5106:
5105:
5009:other karyotypes
4978:
4977:
4760:Cat-eye syndrome
4666:
4665:
4646:
4639:
4632:
4623:
4622:
4611:Sensory friendly
4547:Screening scales
4396:Timothy syndrome
4303:Verbal Dyspraxia
4266:Anxiety disorder
4198:Nonverbal autism
4173:Autistic masking
4163:Autistic burnout
4021:
4014:
4007:
3998:
3997:
3854:
3853:
3837:
3820:
3803:
3774:
3748:
3738:
3705:
3695:
3670:
3660:
3642:
3609:
3599:
3552:
3551:
3549:
3547:
3536:I Am Jeremy Vest
3528:
3522:
3504:
3498:
3497:
3477:
3471:
3470:
3460:
3428:
3422:
3421:
3385:
3379:
3378:
3355:
3349:
3348:
3320:
3314:
3313:
3277:
3271:
3270:
3260:
3220:
3214:
3213:
3203:
3179:
3173:
3172:
3157:
3148:
3135:
3129:
3128:
3118:
3086:
3080:
3079:
3051:
3045:
3044:
3034:
3010:
3004:
3003:
2993:
2961:
2955:
2954:
2936:
2904:
2898:
2897:
2869:
2863:
2862:
2834:
2828:
2827:
2809:
2785:
2779:
2778:
2742:
2736:
2735:
2707:
2698:
2697:
2661:
2655:
2654:
2626:
2615:
2614:
2612:
2610:
2579:
2573:
2572:
2536:
2525:
2524:
2496:
2490:
2486:
2480:
2479:
2454:(1–2): 291–316.
2443:
2437:
2436:
2400:
2394:
2393:
2365:
2359:
2358:
2322:
2316:
2315:
2279:
2273:
2272:
2262:
2252:
2220:
2214:
2213:
2211:
2209:
2196:
2187:
2181:
2180:
2170:
2138:
2132:
2131:
2121:
2085:
2079:
2078:
2050:
2035:
2034:
2032:
2030:
2007:
2001:
2000:
1964:
1951:
1950:
1914:
1908:
1907:
1897:
1865:
1859:
1858:
1830:
1824:
1823:
1795:
1789:
1788:
1751:
1745:
1744:
1700:
1694:
1693:
1673:
1667:
1666:
1640:
1620:
1614:
1613:
1589:
1580:
1579:
1577:
1575:
1552:
1546:
1543:
1537:
1536:
1534:
1533:
1518:
1512:
1511:
1501:
1483:
1459:
1453:
1452:
1416:
1401:
1400:
1398:
1397:
1377:
1368:
1367:
1357:
1325:
1319:
1318:
1316:
1315:
1293:
1284:
1283:
1247:
1241:
1240:
1212:
1199:
1198:
1178:
1169:
1163:
1162:
1158:
1156:
1154:
1134:
1109:
1108:
1092:
1037:How's Your News?
1007:English folklore
369:depth perception
177:genetic disorder
58:Medical genetics
42:
22:
21:
5507:
5506:
5502:
5501:
5500:
5498:
5497:
5496:
5447:
5446:
5445:
5440:
5401:Ring chromosome
5361:
5254:
5187:
5091:
5007:
4994:
4958:
4771:
4670:
4655:
4650:
4620:
4615:
4606:Autism-friendly
4594:
4568:
4542:
4511:
4466:
4410:
4376:Noonan syndrome
4336:CHARGE syndrome
4307:
4242:
4208:Savant syndrome
4145:
4139:
4096:
4077:Pathophysiology
4030:
4025:
3995:
3990:
3989:
3933:
3932:
3865:
3844:
3832:(Documentary).
3825:
3815:(Documentary).
3808:
3792:(Self) (2013).
3784:
3781:
3771:
3755:
3721:(1–2): 123–48.
3566:
3561:
3559:Further reading
3556:
3555:
3545:
3543:
3530:
3529:
3525:
3514:Wayback Machine
3505:
3501:
3494:
3478:
3474:
3429:
3425:
3386:
3382:
3356:
3352:
3321:
3317:
3288:(5): 1192–204.
3278:
3274:
3221:
3217:
3180:
3176:
3159:
3158:
3151:
3145:Wayback Machine
3136:
3132:
3087:
3083:
3062:(10): 1947–54.
3052:
3048:
3011:
3007:
2962:
2958:
2913:Current Biology
2905:
2901:
2870:
2866:
2835:
2831:
2786:
2782:
2743:
2739:
2708:
2701:
2662:
2658:
2627:
2618:
2608:
2606:
2599:
2580:
2576:
2537:
2528:
2497:
2493:
2487:
2483:
2444:
2440:
2401:
2397:
2366:
2362:
2323:
2319:
2280:
2276:
2221:
2217:
2207:
2205:
2194:
2188:
2184:
2139:
2135:
2086:
2082:
2051:
2038:
2028:
2026:
2024:
2008:
2004:
1981:10.1038/nrn1906
1965:
1954:
1915:
1911:
1866:
1862:
1831:
1827:
1796:
1792:
1752:
1748:
1711:(5211): 621–2.
1701:
1697:
1674:
1670:
1638:10.1.1.545.5502
1621:
1617:
1610:
1590:
1583:
1573:
1571:
1569:
1553:
1549:
1544:
1540:
1531:
1529:
1520:
1519:
1515:
1460:
1456:
1417:
1404:
1395:
1393:
1378:
1371:
1326:
1322:
1313:
1311:
1294:
1287:
1248:
1244:
1213:
1202:
1195:
1179:
1172:
1160:
1152:
1150:
1135:
1112:
1093:
1068:
1063:
1046:
994:
981:
972:
945:inguinal hernia
933:
892:
808:
806:
579:
575:
486:
433:
380:
352:seem to occur.
346:left-handedness
290:
271:low muscle tone
255:
247:Life expectancy
228:genetic testing
145:life expectancy
116:Noonan syndrome
20:
17:
12:
11:
5:
5505:
5495:
5494:
5489:
5487:Rare syndromes
5484:
5479:
5474:
5469:
5464:
5459:
5442:
5441:
5439:
5438:
5437:
5436:
5398:
5393:
5384:
5379:
5373:
5371:
5367:
5366:
5363:
5362:
5360:
5359:
5337:
5323:
5309:
5295:
5281:
5266:
5264:
5260:
5259:
5256:
5255:
5253:
5252:
5238:
5224:
5210:
5195:
5193:
5189:
5188:
5186:
5185:
5180:
5166:
5154:
5140:
5125:
5123:
5116:
5103:
5101:Translocations
5097:
5096:
5093:
5092:
5090:
5089:
5084:
5078:
5077:
5072:
5067:
5061:
5060:
5055:
5050:
5044:
5043:
5038:
5033:
5028:
5023:
5017:
5015:
4996:
4995:
4993:
4992:
4986:
4984:
4975:
4964:
4963:
4960:
4959:
4957:
4956:
4946:
4945:
4944:
4943:
4921:
4920:
4919:
4918:
4908:
4907:
4906:
4896:
4895:
4894:
4884:
4883:
4882:
4864:
4863:
4862:
4852:
4851:
4850:
4840:
4839:
4838:
4824:
4823:
4822:
4812:
4811:
4810:
4781:
4779:
4773:
4772:
4770:
4769:
4768:
4767:
4757:
4752:
4747:
4746:
4745:
4735:
4730:
4725:
4720:
4719:
4718:
4711:Patau syndrome
4708:
4703:
4698:
4693:
4688:
4683:
4677:
4675:
4663:
4657:
4656:
4649:
4648:
4641:
4634:
4626:
4617:
4616:
4614:
4613:
4608:
4602:
4600:
4599:Accommodations
4596:
4595:
4593:
4592:
4587:
4582:
4576:
4574:
4570:
4569:
4567:
4566:
4561:
4556:
4550:
4548:
4544:
4543:
4541:
4540:
4535:
4530:
4525:
4519:
4517:
4513:
4512:
4510:
4509:
4508:
4507:
4497:
4492:
4487:
4482:
4476:
4474:
4468:
4467:
4465:
4464:
4459:
4457:TEACCH program
4454:
4452:Neurodiversity
4449:
4444:
4439:
4434:
4432:Discrimination
4429:
4424:
4418:
4416:
4415:Related issues
4412:
4411:
4409:
4408:
4403:
4398:
4393:
4388:
4383:
4378:
4373:
4368:
4363:
4358:
4353:
4348:
4343:
4341:Cohen syndrome
4338:
4333:
4328:
4323:
4317:
4315:
4309:
4308:
4306:
4305:
4300:
4295:
4290:
4285:
4280:
4275:
4274:
4273:
4263:
4258:
4252:
4250:
4244:
4243:
4241:
4240:
4235:
4230:
4225:
4220:
4215:
4210:
4205:
4200:
4195:
4190:
4185:
4180:
4175:
4170:
4165:
4160:
4155:
4149:
4147:
4141:
4140:
4138:
4137:
4132:
4131:
4130:
4125:
4120:
4115:
4113:Classic autism
4104:
4102:
4098:
4097:
4095:
4094:
4089:
4084:
4082:Sex and gender
4079:
4074:
4069:
4064:
4059:
4054:
4049:
4044:
4038:
4036:
4032:
4031:
4024:
4023:
4016:
4009:
4001:
3992:
3991:
3988:
3987:
3976:
3965:
3954:
3942:
3941:
3939:
3935:
3934:
3931:
3930:
3919:
3908:
3897:
3882:
3866:
3861:
3860:
3858:
3857:Classification
3851:
3850:
3843:
3842:External links
3840:
3839:
3838:
3822:
3821:
3805:
3804:
3802:: micro_scope.
3780:
3777:
3776:
3775:
3769:
3754:
3751:
3750:
3749:
3706:
3671:
3610:
3565:
3562:
3560:
3557:
3554:
3553:
3532:"About Jeremy"
3523:
3499:
3492:
3472:
3423:
3380:
3350:
3315:
3272:
3235:(6): 287–292.
3215:
3174:
3171:on 2011-12-16.
3149:
3130:
3107:10.1086/302214
3081:
3046:
3025:(5): 799–806.
3005:
2982:10.1086/506371
2956:
2899:
2864:
2829:
2780:
2737:
2718:(2): 297–309.
2699:
2656:
2616:
2597:
2574:
2526:
2491:
2481:
2438:
2395:
2360:
2317:
2274:
2215:
2182:
2133:
2080:
2036:
2022:
2002:
1952:
1909:
1860:
1825:
1790:
1746:
1695:
1668:
1615:
1608:
1581:
1567:
1547:
1538:
1513:
1454:
1427:(4): 189–208.
1402:
1369:
1320:
1303:New York Times
1285:
1242:
1223:(6): 576–608.
1200:
1193:
1170:
1110:
1065:
1064:
1062:
1059:
1058:
1057:
1052:
1045:
1042:
993:
990:
980:
977:
971:
968:
932:
929:
891:
888:
805:
804:
799:
794:
789:
784:
777:
770:
763:
756:
751:
746:
739:
734:
727:
720:
713:
706:
699:
692:
685:
678:
671:
664:
657:
650:
643:
636:
629:
622:
615:
608:
601:
596:
589:
581:
577:
576:
574:
571:
485:
482:
432:
429:
379:
378:Nervous system
376:
342:absolute pitch
338:auditory nerve
318:Hypothyroidism
306:diverticulitis
289:
286:
254:
251:
193:heart problems
156:
155:
152:
148:
147:
141:
135:
134:
131:
127:
126:
113:
107:
106:
103:
99:
98:
95:
91:
90:
84:Heart problems
81:
75:
74:
71:
65:
64:
55:
49:
48:
44:
43:
35:
34:
31:
27:
26:
18:
15:
9:
6:
4:
3:
2:
5504:
5493:
5490:
5488:
5485:
5483:
5480:
5478:
5475:
5473:
5470:
5468:
5465:
5463:
5460:
5458:
5455:
5454:
5452:
5435:
5431:
5427:
5423:
5419:
5415:
5411:
5407:
5404:
5403:
5402:
5399:
5397:
5394:
5392:
5388:
5385:
5383:
5380:
5378:
5375:
5374:
5372:
5368:
5357:
5353:
5349:
5345:
5341:
5338:
5335:
5331:
5327:
5324:
5321:
5317:
5313:
5310:
5307:
5303:
5299:
5296:
5293:
5289:
5285:
5282:
5279:
5275:
5271:
5270:Ewing sarcoma
5268:
5267:
5265:
5261:
5250:
5246:
5242:
5239:
5236:
5232:
5228:
5225:
5222:
5218:
5214:
5211:
5208:
5204:
5200:
5197:
5196:
5194:
5190:
5184:
5181:
5178:
5174:
5170:
5167:
5165:
5162:
5158:
5155:
5152:
5148:
5144:
5141:
5138:
5134:
5130:
5127:
5126:
5124:
5120:
5117:
5115:
5111:
5107:
5104:
5102:
5098:
5088:
5085:
5083:
5080:
5079:
5076:
5073:
5071:
5068:
5066:
5063:
5062:
5059:
5056:
5054:
5051:
5049:
5046:
5045:
5042:
5039:
5037:
5034:
5032:
5029:
5027:
5024:
5022:
5019:
5018:
5016:
5014:
5010:
5005:
5001:
4997:
4991:
4988:
4987:
4985:
4983:
4979:
4976:
4973:
4969:
4965:
4955:
4954:Proximal 18q-
4951:
4948:
4947:
4941:
4937:
4933:
4930:
4929:
4928:
4927:
4923:
4922:
4917:
4914:
4913:
4912:
4909:
4905:
4902:
4901:
4900:
4897:
4893:
4890:
4889:
4888:
4885:
4881:
4878:
4877:
4876:
4872:
4868:
4865:
4861:
4858:
4857:
4856:
4853:
4849:
4846:
4845:
4844:
4841:
4837:
4834:
4833:
4832:
4828:
4825:
4821:
4818:
4817:
4816:
4813:
4809:
4806:
4805:
4803:
4799:
4795:
4791:
4787:
4783:
4782:
4780:
4778:
4774:
4766:
4763:
4762:
4761:
4758:
4756:
4753:
4751:
4748:
4744:
4741:
4740:
4739:
4738:Down syndrome
4736:
4734:
4731:
4729:
4726:
4724:
4721:
4717:
4714:
4713:
4712:
4709:
4707:
4704:
4702:
4699:
4697:
4694:
4692:
4689:
4687:
4684:
4682:
4679:
4678:
4676:
4674:
4669:Duplications,
4667:
4664:
4662:
4658:
4654:
4647:
4642:
4640:
4635:
4633:
4628:
4627:
4624:
4612:
4609:
4607:
4604:
4603:
4601:
4597:
4591:
4588:
4586:
4583:
4581:
4578:
4577:
4575:
4571:
4565:
4562:
4560:
4557:
4555:
4552:
4551:
4549:
4545:
4539:
4536:
4534:
4531:
4529:
4526:
4524:
4521:
4520:
4518:
4514:
4506:
4503:
4502:
4501:
4498:
4496:
4493:
4491:
4488:
4486:
4483:
4481:
4478:
4477:
4475:
4473:
4472:Controversies
4469:
4463:
4460:
4458:
4455:
4453:
4450:
4448:
4445:
4443:
4440:
4438:
4435:
4433:
4430:
4428:
4425:
4423:
4420:
4419:
4417:
4413:
4407:
4404:
4402:
4399:
4397:
4394:
4392:
4389:
4387:
4386:Rett syndrome
4384:
4382:
4379:
4377:
4374:
4372:
4369:
4367:
4364:
4362:
4359:
4357:
4354:
4352:
4351:Down syndrome
4349:
4347:
4344:
4342:
4339:
4337:
4334:
4332:
4329:
4327:
4324:
4322:
4319:
4318:
4316:
4314:
4310:
4304:
4301:
4299:
4296:
4294:
4291:
4289:
4286:
4284:
4281:
4279:
4276:
4272:
4269:
4268:
4267:
4264:
4262:
4259:
4257:
4254:
4253:
4251:
4249:
4245:
4239:
4236:
4234:
4231:
4229:
4226:
4224:
4221:
4219:
4216:
4214:
4211:
4209:
4206:
4204:
4201:
4199:
4196:
4194:
4191:
4189:
4186:
4184:
4181:
4179:
4176:
4174:
4171:
4169:
4166:
4164:
4161:
4159:
4156:
4154:
4151:
4150:
4148:
4146:and phenomena
4142:
4136:
4133:
4129:
4126:
4124:
4121:
4119:
4116:
4114:
4111:
4110:
4109:
4106:
4105:
4103:
4099:
4093:
4090:
4088:
4085:
4083:
4080:
4078:
4075:
4073:
4070:
4068:
4065:
4063:
4060:
4058:
4055:
4053:
4050:
4048:
4045:
4043:
4040:
4039:
4037:
4033:
4029:
4022:
4017:
4015:
4010:
4008:
4003:
4002:
3999:
3986:
3982:
3981:
3977:
3975:
3971:
3970:
3966:
3964:
3960:
3959:
3955:
3953:
3949:
3948:
3944:
3943:
3940:
3936:
3929:
3925:
3924:
3920:
3918:
3914:
3913:
3909:
3907:
3903:
3902:
3898:
3896:
3892:
3891:
3887:
3883:
3881:
3877:
3876:
3872:
3868:
3867:
3864:
3859:
3855:
3849:
3846:
3845:
3835:
3831:
3830:
3824:
3823:
3818:
3814:
3813:
3807:
3806:
3801:
3797:
3796:
3791:
3787:
3783:
3782:
3772:
3766:
3762:
3757:
3756:
3746:
3742:
3737:
3732:
3728:
3724:
3720:
3716:
3712:
3707:
3703:
3699:
3694:
3689:
3685:
3681:
3677:
3672:
3668:
3664:
3659:
3654:
3650:
3646:
3641:
3636:
3632:
3628:
3624:
3620:
3616:
3611:
3607:
3603:
3598:
3593:
3589:
3585:
3582:(2): 112–24.
3581:
3577:
3573:
3568:
3567:
3541:
3537:
3533:
3527:
3520:
3519:
3515:
3511:
3508:
3503:
3495:
3489:
3485:
3484:
3476:
3468:
3464:
3459:
3454:
3450:
3446:
3442:
3438:
3434:
3427:
3419:
3415:
3411:
3407:
3403:
3399:
3396:(4): 269–71.
3395:
3391:
3384:
3376:
3372:
3368:
3364:
3363:
3354:
3346:
3342:
3338:
3334:
3331:(5): 346–58.
3330:
3326:
3319:
3311:
3307:
3303:
3299:
3295:
3291:
3287:
3283:
3276:
3268:
3264:
3259:
3254:
3250:
3246:
3242:
3238:
3234:
3230:
3226:
3219:
3211:
3207:
3202:
3197:
3193:
3189:
3185:
3178:
3170:
3166:
3162:
3156:
3154:
3146:
3142:
3139:
3134:
3126:
3122:
3117:
3112:
3108:
3104:
3101:(1): 118–25.
3100:
3096:
3092:
3085:
3077:
3073:
3069:
3065:
3061:
3057:
3050:
3042:
3038:
3033:
3028:
3024:
3020:
3016:
3009:
3001:
2997:
2992:
2987:
2983:
2979:
2976:(2): 332–41.
2975:
2971:
2967:
2960:
2952:
2948:
2944:
2940:
2935:
2930:
2926:
2922:
2919:(7): R307–8.
2918:
2914:
2910:
2903:
2895:
2891:
2887:
2883:
2879:
2875:
2868:
2860:
2856:
2852:
2848:
2844:
2840:
2833:
2825:
2821:
2817:
2813:
2808:
2803:
2800:(8): 527–33.
2799:
2795:
2791:
2784:
2776:
2772:
2768:
2764:
2760:
2756:
2753:(2): 129–41.
2752:
2748:
2741:
2733:
2729:
2725:
2721:
2717:
2713:
2706:
2704:
2695:
2691:
2687:
2683:
2679:
2675:
2671:
2667:
2660:
2652:
2648:
2644:
2640:
2637:(2): 158–69.
2636:
2632:
2625:
2623:
2621:
2604:
2600:
2594:
2590:
2589:
2584:
2578:
2570:
2566:
2562:
2558:
2554:
2550:
2547:(3): 177–90.
2546:
2542:
2535:
2533:
2531:
2522:
2518:
2514:
2510:
2506:
2502:
2495:
2485:
2477:
2473:
2469:
2465:
2461:
2457:
2453:
2449:
2442:
2434:
2430:
2426:
2422:
2418:
2414:
2411:(6): 668–80.
2410:
2406:
2399:
2391:
2387:
2383:
2379:
2376:(2): 318–26.
2375:
2371:
2364:
2356:
2352:
2348:
2344:
2340:
2336:
2332:
2328:
2321:
2313:
2309:
2305:
2301:
2297:
2293:
2289:
2285:
2278:
2270:
2266:
2261:
2256:
2251:
2246:
2242:
2238:
2235:(8): e12326.
2234:
2230:
2226:
2219:
2204:
2200:
2193:
2186:
2178:
2174:
2169:
2164:
2160:
2156:
2153:(4): 1132–9.
2152:
2148:
2144:
2137:
2129:
2125:
2120:
2115:
2111:
2107:
2103:
2099:
2095:
2091:
2084:
2076:
2072:
2068:
2064:
2061:(3): 166–72.
2060:
2056:
2049:
2047:
2045:
2043:
2041:
2025:
2019:
2015:
2014:
2006:
1998:
1994:
1990:
1986:
1982:
1978:
1975:(5): 380–93.
1974:
1970:
1963:
1961:
1959:
1957:
1948:
1944:
1940:
1936:
1932:
1928:
1924:
1920:
1913:
1905:
1901:
1896:
1891:
1887:
1883:
1880:(3): 635–44.
1879:
1875:
1871:
1864:
1856:
1852:
1848:
1844:
1840:
1836:
1829:
1821:
1817:
1813:
1809:
1806:(3): 355–60.
1805:
1801:
1794:
1786:
1782:
1778:
1774:
1770:
1766:
1763:(8): 967–76.
1762:
1758:
1750:
1742:
1738:
1734:
1730:
1726:
1722:
1718:
1714:
1710:
1706:
1699:
1691:
1687:
1683:
1679:
1672:
1664:
1660:
1656:
1652:
1648:
1644:
1639:
1634:
1630:
1626:
1619:
1611:
1605:
1601:
1597:
1596:
1588:
1586:
1570:
1564:
1560:
1559:
1551:
1542:
1528:on 2011-12-11
1527:
1523:
1517:
1509:
1505:
1500:
1495:
1491:
1487:
1482:
1477:
1473:
1469:
1465:
1458:
1450:
1446:
1442:
1438:
1434:
1430:
1426:
1422:
1415:
1413:
1411:
1409:
1407:
1391:
1387:
1383:
1376:
1374:
1365:
1361:
1356:
1351:
1347:
1343:
1339:
1335:
1331:
1324:
1309:
1305:
1304:
1299:
1292:
1290:
1281:
1277:
1273:
1269:
1265:
1261:
1257:
1253:
1246:
1238:
1234:
1230:
1226:
1222:
1218:
1211:
1209:
1207:
1205:
1196:
1190:
1186:
1185:
1177:
1175:
1167:
1166:public domain
1148:
1144:
1140:
1133:
1131:
1129:
1127:
1125:
1123:
1121:
1119:
1117:
1115:
1106:
1102:
1098:
1091:
1089:
1087:
1085:
1083:
1081:
1079:
1077:
1075:
1073:
1071:
1066:
1056:
1053:
1051:
1048:
1047:
1041:
1039:
1038:
1033:
1032:
1027:
1023:
1019:
1014:
1010:
1008:
1004:
1000:
989:
986:
976:
967:
964:
962:
961:temporal gyri
958:
952:
948:
946:
942:
937:
928:
925:
923:
917:
914:
913:hybridization
912:
906:
901:
898:
887:
885:
881:
877:
873:
869:
865:
861:
860:
855:
854:
849:
848:
843:
842:
837:
836:
831:
830:
825:
821:
817:
813:
803:
800:
798:
795:
793:
790:
788:
785:
783:
782:
778:
776:
775:
771:
769:
768:
764:
762:
761:
757:
755:
752:
750:
747:
745:
744:
740:
738:
735:
733:
732:
728:
726:
725:
721:
719:
718:
714:
712:
711:
707:
705:
704:
700:
698:
697:
693:
691:
690:
686:
684:
683:
679:
677:
676:
672:
670:
669:
665:
663:
662:
658:
656:
655:
651:
649:
648:
644:
642:
641:
637:
635:
634:
630:
628:
627:
623:
621:
620:
616:
614:
613:
609:
607:
606:
602:
600:
597:
595:
594:
590:
588:
587:
583:
582:
570:
566:
562:
558:
556:
551:
547:
543:
539:
535:
531:
527:
523:
519:
515:
509:
505:
503:
499:
495:
491:
481:
478:
477:genitourinary
474:
470:
464:
462:
456:
454:
450:
446:
440:
438:
428:
424:
421:
416:
411:
408:
403:
401:
397:
396:hyperreflexia
391:
389:
388:parietal lobe
385:
375:
373:
370:
366:
362:
358:
353:
351:
347:
343:
339:
335:
331:
327:
322:
319:
315:
311:
307:
303:
299:
295:
294:heart murmurs
285:
283:
278:
276:
272:
268:
259:
250:
248:
244:
240:
236:
231:
229:
225:
221:
217:
213:
212:chromosome 7s
209:
204:
202:
198:
194:
190:
186:
182:
178:
174:
170:
166:
162:
153:
149:
146:
142:
140:
136:
132:
128:
125:
121:
117:
114:
112:
108:
104:
100:
96:
92:
89:
86:, periods of
85:
82:
80:
79:Complications
76:
72:
70:
66:
63:
59:
56:
54:
50:
45:
41:
36:
32:
28:
23:
4924:
4842:
4798:TAR syndrome
4701:Tetrasomy 9p
4405:
4062:Heritability
4052:Epidemiology
3978:
3967:
3956:
3945:
3921:
3910:
3899:
3884:
3869:
3827:
3811:
3794:
3788:(Director);
3760:
3718:
3714:
3686:(2): 77–85.
3683:
3679:
3622:
3618:
3579:
3575:
3544:. Retrieved
3535:
3526:
3516:
3502:
3482:
3475:
3443:(2): 203–8.
3440:
3436:
3426:
3393:
3389:
3383:
3361:
3353:
3328:
3324:
3318:
3285:
3281:
3275:
3232:
3228:
3218:
3194:(1): 49–53.
3191:
3187:
3177:
3169:the original
3164:
3133:
3098:
3094:
3084:
3059:
3055:
3049:
3022:
3018:
3008:
2973:
2969:
2959:
2916:
2912:
2902:
2880:(1): 45–53.
2877:
2873:
2867:
2845:(2): 183–9.
2842:
2838:
2832:
2797:
2793:
2783:
2750:
2746:
2740:
2715:
2711:
2672:(1): 59–90.
2669:
2665:
2659:
2634:
2630:
2607:. Retrieved
2587:
2577:
2544:
2540:
2504:
2500:
2494:
2484:
2451:
2447:
2441:
2408:
2404:
2398:
2373:
2369:
2363:
2333:(2): 221–4.
2330:
2326:
2320:
2290:(6): 532–6.
2287:
2283:
2277:
2232:
2228:
2218:
2208:February 17,
2206:. Retrieved
2198:
2185:
2150:
2146:
2136:
2101:
2097:
2083:
2058:
2054:
2027:. Retrieved
2012:
2005:
1972:
1968:
1925:(2): 200–9.
1922:
1918:
1912:
1877:
1873:
1863:
1841:(1): 58–60.
1838:
1834:
1828:
1803:
1799:
1793:
1760:
1756:
1749:
1708:
1704:
1698:
1681:
1677:
1671:
1631:(3): 390–5.
1628:
1624:
1618:
1594:
1572:. Retrieved
1557:
1550:
1541:
1530:. Retrieved
1526:the original
1516:
1471:
1467:
1457:
1424:
1420:
1394:. Retrieved
1337:
1334:Acta Naturae
1333:
1323:
1312:. Retrieved
1301:
1258:(2): 267–9.
1255:
1251:
1245:
1220:
1216:
1183:
1151:. Retrieved
1142:
1096:
1035:
1029:
1026:Best Actress
1015:
1011:
995:
982:
973:
970:Epidemiology
965:
953:
949:
938:
934:
926:
918:
910:
909:fluorescent
902:
893:
883:
879:
875:
871:
857:
851:
845:
839:
833:
827:
820:heterozygous
809:
801:
796:
791:
786:
779:
772:
765:
758:
753:
748:
741:
736:
729:
722:
715:
708:
701:
694:
687:
680:
673:
666:
659:
652:
645:
638:
631:
624:
617:
610:
603:
598:
591:
584:
567:
563:
559:
542:Brontosaurus
510:
506:
487:
473:Hypertension
465:
457:
441:
434:
425:
412:
404:
392:
381:
371:
354:
323:
314:tooth enamel
291:
279:
264:
232:
205:
203:are common.
195:(especially
172:
168:
164:
160:
159:
5087:46,XX/46,XY
5004:tetrasomies
4950:Distal 18q-
4490:MMR vaccine
4218:Infodumping
4193:Monotropism
4188:Late talker
4153:Alexithymia
4057:Epigenetics
3969:GeneReviews
3947:MedlinePlus
3834:Los Angeles
2507:(1): 3–15.
2104:(1): 1–35.
1684:(2): 90–2.
1474:: 143–151.
1386:MedlinePlus
1340:(1): 9–22.
1097:GeneReviews
494:hyperacusis
431:Development
330:phonophobia
326:hyperacusia
189:personality
30:Other names
5451:Categories
5082:45,X/46,XY
4982:Monosomies
4755:Trisomy 22
4733:Trisomy 18
4723:Trisomy 16
4671:including
4500:Thiomersal
4442:Employment
4233:Echopraxia
4183:Hyperlexia
3923:DiseasesDB
3717:(Review).
3682:(Review).
3621:(Review).
3578:(Review).
3282:Pediatrics
2609:7 December
2029:7 December
1574:7 December
1532:2011-12-07
1396:2011-12-07
1314:2007-09-25
1153:22 January
1061:References
922:anteverted
469:hypertonia
449:morphology
384:cerebellum
357:strabismus
282:hyperfocus
62:pediatrics
5000:Trisomies
4777:Deletions
4696:Trisomy 9
4691:Trisomy 8
4673:trisomies
4661:Autosomal
4505:Chelation
4228:Echolalia
4101:Diagnoses
4092:Therapies
4047:Diagnosis
3958:eMedicine
3795:Gabrielle
3310:245067428
3249:1661-8769
2666:Cognition
1633:CiteSeerX
1625:Neurology
1490:1179-1578
1280:206933052
1031:Gabrielle
931:Treatment
890:Diagnosis
453:phonology
445:semantics
400:nystagmus
361:esotropia
151:Frequency
139:Prognosis
130:Treatment
53:Specialty
5122:Lymphoid
5114:lymphoma
5110:Leukemia
4283:Epilepsy
4223:Stimming
3980:Orphanet
3963:ped/2439
3745:23017087
3702:21242649
3667:23045661
3649:41763522
3606:22395002
3564:Articles
3540:Archived
3510:Archived
3467:20425781
3410:12088082
3375:Archived
3371:20301427
3345:16080773
3302:11331709
3267:25565928
3141:Archived
3076:10469848
3041:17016608
3000:16826523
2951:18640670
2943:20392417
2824:11604030
2775:35259054
2686:10822043
2651:10207579
2603:Archived
2583:Pinker S
2569:40234725
2561:11305686
2521:17326109
2476:21485680
2468:12730029
2433:19951012
2425:16269236
2355:23865845
2347:18353064
2312:31902198
2304:14982294
2269:20808792
2229:PLOS ONE
2177:19176822
2128:18211726
2075:15730896
1989:16760918
1939:15965761
1904:19255058
1785:24853662
1777:16207621
1741:39114788
1690:11770962
1655:16476938
1508:26082669
1449:22317978
1441:10326175
1390:Archived
1364:24772323
1308:Archived
1272:21107555
1237:18489677
1147:Archived
1105:20301427
1044:See also
897:stellate
880:GTF2IRD1
847:GTF2IRD1
816:deletion
661:GTF2IRD1
530:sea lion
415:amygdala
386:, right
288:Physical
275:philtrum
208:deletion
175:), is a
167:), also
143:Shorter
97:Lifelong
94:Duration
69:Symptoms
5350:) t (1
5217:RUNX1T1
5192:Myeloid
5013:mosaics
4590:Schools
4067:History
3917:D018980
3736:3478137
3658:3477396
3627:Bibcode
3597:3680360
3458:2946897
3418:2072455
3258:4281575
3210:7611295
3201:1801249
3125:9915950
3116:1377709
2991:1559497
2921:Bibcode
2894:9241407
2859:9669231
2816:9295848
2767:2338177
2732:3584299
2694:3104320
2489:Chicago
2390:2456379
2260:2925895
2237:Bibcode
2168:2754840
2119:2892602
1997:2780757
1895:2724925
1855:9027682
1820:7503839
1733:7732360
1713:Bibcode
1705:Science
1663:2364495
1499:4461016
1355:3999462
1003:fairies
979:History
911:in situ
907:or the
864:elastin
802:WBSCR28
797:WBSCR27
792:WBSCR24
787:WBSCR23
781:WBSCR22
774:WBSCR21
767:WBSCR18
760:WBSCR14
555:prosody
526:unicorn
522:vulture
407:ventral
239:therapy
105:Genetic
5302:COL1A1
4974:linked
4072:Memory
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