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intellectual disability, and one or both of the following major criteria: (1) a pathogenic or likely pathogenic variant in KMT2D or KDM6A; and (2) typical dysmorphic features (defined below) at some point of life. Typical dysmorphic features include long palpebral fissures with eversion of the lateral third of the lower eyelid and two or more of the following: (1) arched and broad eyebrows with the lateral third displaying notching or sparseness; (2) short columella with depressed nasal tip; (3) large, prominent or cupped ears; and (4) persistent fingertip pads. Further criteria for a probable and possible diagnosis, including a table of suggestive clinical features, were included in the publication.
72:
495:. Although not routine for the general population, if Kabuki syndrome is a specific concern (i.e. expectant mother who has been diagnosed with Kabuki syndrome or sibling with KS), it is possible to test for one of the specific mutations. This prenatal testing does require a CVS or amniocentesis. However Kabuki syndrome is usually not inherited and therefore most cases do not have a positive family history. Kabuki syndrome can have positive screening tests, such as
86:
or intestinal malformation), hearing loss, immune deficiencies (e.g. hypogammaglobinemia), feeding difficulty (infants), obesity (adulthood), short stature, poor sleep, hyperinsulinemia (hypoglycemia), epilepsy, cardiac defects (e.g. coarctation of the aorta), vertebral anamolies (e.g. butterfly vertebrae), sparse lateral eyelash, finger anomaly (e.g. short 5th finger), cleft palate, dental issues, precocious puberty, scoliosis, hip dysplasia
200:
386:
48:
532:
Kabuki syndrome are routinely evaluated and monitored to address problems that may develop, such as vision or hearing problems, or cognitive difficulties. If congenital heart disease is present, prophylactic antibiotics may be recommended before any procedures such as dental work that might cause infection.
454:
Diagnosis can be difficult given the large spectrum of disease. The fact that some patients do not carry one of the two known mutations or can carry multiple mutations complicates the diagnosis further. In 2017, researchers published work that showed people with Kabuki syndrome have a unique pattern
85:
Vary widely among patients but may include: Long eyelashes, depressed nasal tip, atypical fingerprints, ear deformity (macrotia or microtia), hypotonia, joint hyperflexibility, ptosis, blue sclera, cafe au lait spot, GU anomalies (e.g. hypospadias or horseshoe kidney), gi anomalies (e.g. anal atresia
639:
MD, a geneticist in Japan was treating a child patient presenting with unique facial characteristics and various health problems. Never having seen this constellation of symptoms before, Dr
Niikawa wondered if he was faced with an undiagnosed condition, a disorder with a genetic basis. Over the next
663:
As reported by Dr. Niikawa "The name, 'Kabuki make-up', of the syndrome was given by myself, because the facial appearance of patients, especially eversion of their lower eyelids, is reminiscent of the makeup of actors in Kabuki, the traditional form of
Japanese theater. Kabuki was founded early in
211:
for Kabuki syndrome vary, with large differences between affected individuals. Most people with Kabuki syndrome have distinctive facial features that include arched eyebrows, long eyelashes, elongated eyelids with lower lids that turn out, prominent ears, a flat tip of the nose and a downward slant
269:
Young children with Kabuki syndrome benefit from early intervention services. School age children tend to have fewer medical issues requiring hospitalization, though frequent infections, hearing loss and feeding issues occur. In addition, intellectual impairment, difficulty with visuospatial tasks
655:
Dr
Niikawa coined the term 'Kabuki syndrome' (also known as Kabuki make-up syndrome or NiikawaâKuroki syndrome) as a reference to traditional Japanese theatre which he respected greatly. Many of the children presenting with this diagnosis had unusual, elongated lower eyelids, and this feature was
540:
Life expectancy is not shortened in most cases of Kabuki syndrome. Some patients have coexisting conditions which may shorten life expectancy, such as hypoplastic left heart syndrome or kidney dysfunction. It is important that patients with cardiac, renal, or immunologic issues are identified and
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There are currently no Kabuki syndrome specific treatments and there is no cure. Treatment plans are customized to address the symptoms the individual is experiencing. For example, someone experiencing seizures will be treated with the standard anti-epilepsy therapies. Additionally, patients with
265:
Mild to moderate intellectual disability and mild to severe developmental delay are often associated with Kabuki syndrome. Infants and young children often experience difficulties relating to hypotonia, feeding issues/failure to thrive, infections, surgical repair of heart and palate defects and
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levels, pneumococcal titers and a hearing screening test. Further evaluation and testing by specialists may be indicated in addition to cardiology, nephrology, allergy/immunology, audiology-mentioned above. This may include orthopedics (such as hip dysplasia), pulmonary (sleep study to rule out
369:
pathways. When the genes that encode these enzymes are mutated, epigenetic activation of certain developmental genes is impaired and developmental abnormalities occur, leading to the characteristics of Kabuki syndrome patients. The specific developmental genes that are affected by the impaired
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Conference. A fellow physician at this conference, Yoshikazu Kuroki, recognized the symptoms, and realized that he had also seen several paediatric patients with this presentation; he presented two of his own cases at the second annual conference the following year. In 1981, the two doctors
408:
A consensus on clinical diagnostic criteria for Kabuki syndrome (KS) was defined in
December 2018 by an international group of experts. The authors propose that a definitive diagnosis can be made in an individual of any age with a history of infantile hypotonia, developmental delay and/or
1931:
Ng, Sarah B; Bigham, Abigail W; Buckingham, Kati J; Hannibal, Mark C; McMillin, Margaret J; Gildersleeve, Heidi I; Beck, Anita E; Tabor, Holly K; Cooper, Gregory M; Mefford, Heather C; Lee, Choli; Turner, Emily H; Smith, Joshua D; Rieder, Mark J; Yoshiura, Koh-ichiro (September 2010).
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obstructive sleep apnea due to hypotonia), ophthalmology evaluation (vision screen), ENT evaluation (hearing evaluation), Neurology evaluation (i.e. if seizures present), Hematology evaluation (if bleeding disorder), GI evaluation (if gi abnormalities), or others as needed.
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Some cases of Kabuki syndrome have no identifiable causative mutation. These may represent individuals with types of mutations that are challenging to detect via current routine investigations or patients who have disorders that share some features with Kabuki syndrome.
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and maintaining attention usually require an IEP (individualized education plan) if the child attends public school. Older children and adults report difficulties with anxiety. Endocrine abnormalities and immune system abnormalities such as ITP (idiopathic
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the 17th century in Japan and over the next 300 years developed into a sophisticated form of theater. Kabuki actors usually apply traditional makeup to strengthen their eyes, especially in a hero play, and they are very proud of their performing art."
420:: Elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows with the lateral third displaying sparseness or notching; short columella with depressed nasal tip; large, prominent, or cupped ears
2151:
2136:
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Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I (October 1981). "A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation".
2273:
1356:
Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, Adam MP, Hudgins L, Hannibal M (16 May 2013). Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.).
516:
412:
The original description of Kabuki syndrome by
Niikawa et al. defined five cardinal manifestations, although some of these âcardinal manifestationsâ may or may not be present in a patient with Kabuki syndrome.
1837:
Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T (October 1981). "Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency".
1389:
Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T (October 1981). "Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency".
2266:
549:
Kabuki syndrome occurs about once in every 32,000 births. The disease appears to affect all population groups equally, with no differences based on sex, race, or environment. In 2023, a project called
1463:
Schrander-Stumpel CT, Spruyt L, Curfs LM, Defloor T, Schrander JJ (January 2005). "Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management".
1248:
Banka S, Lederer D, Benoit V, Jenkins E, Howard E, Bunstone S, et al. (March 2015). "Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)".
2259:
616:. Several European groups based in Italy, France, Germany and the Netherlands are also actively working on improving understanding of the condition and to identifying potential treatments.
3186:
1506:
Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, et al. (January 2005). "Further delineation of Kabuki syndrome in 48 well-defined new individuals".
704:. Season five's ninth episode features Matthew Horner, an actor with Kabuki syndrome. Horner is likely the first actor with Kabuki syndrome to be cast in a major network TV drama.
405:). When genetic testing is not available, Kabuki syndrome is diagnosed clinically (through identifying symptoms, physical exams, and lab results), most commonly by a geneticist.
640:
several years, this physician treated several other patients with the same symptoms in his outpatient genetics clinic, furthering support for a disorder never before diagnosed.
1549:
Aref-Eshghi, Erfan; Schenkel, Laila C.; Lin, Hanxin; Skinner, Cindy; Ainsworth, Peter; Paré, Guillaume; Rodenhiser, David; Schwartz, Charles; Sadikovic, Bekim (2017-11-02).
3298:
519:. Newly diagnosed patients with Kabuki syndrome will often undergo tests that are aimed at detecting common abnormalities associated with the syndrome. They include an
299:
Type 2 Kabuki syndrome is caused by germline hemizygous (in males) or heterozygous (in females) chromosome deletions or loss of function point variants involving
3078:
1110:
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, et al. (February 2019). "Kabuki syndrome: international consensus diagnostic criteria".
292:), located on human chromosome 12. It is estimated that between 55 and 80% of cases of Kabuki syndrome are of Type 1. Type 1 Kabuki syndrome demonstrates an
1425:
Wilson GN (September 1998). "Thirteen cases of
Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management".
2441:
1606:
Long A, Sinkovskaya ES, Edmondson AC, Zackai E, Schrier
Vergano SA (December 2016). "Kabuki syndrome as a cause of non-immune fetal hydrops/ascites".
2682:
2512:
2383:
2873:
2373:
1296:"Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2"
3283:
1551:"The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance"
172:
Kabuki syndrome affects roughly one in 32,000 births. It was first identified and described in 1981 by two
Japanese groups, led by scientists
2405:
208:
166:
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1684:
Adam, Margaret P.; Hudgins, Louanne; Hannibal, Mark (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.),
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3164:
2754:
2476:
2457:
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696:
1004:"How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum"
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Spinal column abnormalities, including sagittal cleft vertebrae, butterfly vertebrae, narrow intervertebral disc space, and/or scoliosis,
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2166:
1438:
523:(ultrasound of the heart) for detection of structural heart defects, kidney ultrasound for detection of structural renal abnormalities,
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1990:
2251:
373:
There are hundreds of different mutations that have been identified in Kabuki syndrome patients. Most of these mutations are in the
176:
and
Yoshikazu Kuroki. It is named Kabuki syndrome because of the facial resemblance of affected individuals to stage makeup used in
309:, located on the X chromosome. Approximately 5% of cases of Kabuki syndrome are of Type 2. Type 2 Kabuki syndrome demonstrates an
274:) and CVID (common variable immune deficiency) are medical issues that tend to present in older children, adolescents and adults.
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574:
2400:
2368:
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2415:
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459:. This unique methylation pattern may lead to new ways to diagnose Kabuki syndrome in those who do not show mutations in
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2313:
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gene and involve a change in amino acid sequence that creates a shortened and nonfunctional chromatin-modifying enzyme.
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2540:
3016:
2486:
2363:
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The genes for Kabuki syndrome were discovered in 2010 and 2012 for Type 1 and Type 2 Kabuki syndrome respectively.
3190:
3178:
3150:
2701:
2607:
3206:
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2915:
2787:
2471:
590:
488:
354:
3011:
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3096:
2177:
934:
Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L (January 2005). "Developmental outcome in Kabuki syndrome".
601:
567:
244:
228:
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365:. Under normal circumstances, these enzymes transfer methyl groups on and off histones to regulate genes via
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3278:
2773:
2621:
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402:
3182:
3006:
593:, as well as groups at University of Colorado, University of Utah, University of South Florida and others.
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Other common symptoms are skeletal abnormalities, short stature, heart defects, feeding difficulties and a
3048:
2954:
2359:
768:
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, et al. (September 2010).
504:
2239:
3054:
2726:
2668:
2654:
2491:
2420:
1201:"Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome"
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326:. However, several cases of inherited mutations causing Type 1 or Type 2 Kabuki syndrome are now known.
624:
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719:
347:
323:
232:
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was established to accelerate research efforts to treat or cure Kabuki syndrome. They launched the
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2014:
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1914:
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Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC, et al. (January 2012).
1294:
Faundes V, Goh S, Akilapa R, Bezuidenhout H, Bjornsson HT, Bradley L, et al. (July 2021).
1002:
Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, et al. (April 2012).
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1971:
1953:
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Lajeunesse C, Stadler A, Trombert B, Varlet MN, Patural H, Prieur F, ChĂȘne G (June 2014). "".
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Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, et al. (July 2011).
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Japanese papermaker with Kabuki syndrome as she memorializes the nineteen victims of the
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in 2023 which is a collaborative clinical research study of Kabuki syndrome biomarkers.
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Type 1 Kabuki syndrome is caused by germline heterozygous loss of function variants in
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17:
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There are two types of Kabuki syndrome. Type 1 is caused by pathogenic variants in
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683:(äŒ). Kabuki is therefore sometimes translated as "the art of singing and dancing".
431:
259:
158:
1566:
1123:
258:, vision and hearing difficulties, weak muscle tone (hypotonia), small head size (
2182:
558:) as a global census to document how many people have Kabuki syndrome worldwide.
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500:
385:
358:
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and severity, although the most common is the characteristic facial appearance.
47:
2217:
2193:
1662:
1358:
1311:
1216:
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has a research program for Kabuki syndrome. In Canada, Dr. Rosanna
Weksberg at
2801:
2145:
1767:#TomorrowsDiscoveries: Intellectual Disability Treatments â Dr. Hans Bjornsson
1765:
1685:
644:
570:. Despite this, several groups around the world are studying Kabuki syndrome.
484:
464:
366:
301:
199:
188:
1957:
1794:
Matsumoto N, Niikawa N (February 2003). "Kabuki make-up syndrome: a review".
1574:
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In 1979, Dr Niikawa presented his findings and hypothesis at the first Japan
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248:
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2092:
1975:
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1815:
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10.1002/(SICI)1096-8628(19980901)79:2<112::AID-AJMG7>3.0.CO;2-S
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1089:
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988:
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554:
was launched by a global collection of patient advocacy groups (led by the
1934:"Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome"
1859:
1796:
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
1446:
1411:
1019:
920:
770:"Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome"
2234:
1807:
1619:
1519:
1476:
1071:
947:
715:
609:
162:
102:
Type 1 (KMT2D), type 2 (KDM6A); other rare mutations unrecognized for now
2128:
322:, that is, the parents are unaffected and the gene was mutated early in
1458:
1456:
1261:
1169:
837:
Genetic and Rare Diseases Information Center (GARD) â an NCATS Program
3042:
3037:
2662:
2648:
2593:
2573:
2410:
2140:
1156:
Bögershausen N, Wollnik B (March 2013). "Unmasking Kabuki syndrome".
657:
350:
177:
1949:
1717:"Kabuki Syndrome - NORD (National Organization for Rare Disorders)"
785:
3158:
3067:
2923:
2895:
2881:
2867:
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2839:
2634:
2601:
1651:
Journal de Gynécologie, Obstétrique et Biologie de la Reproduction
1056:"Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome"
668:
479:
Due to its rarity, Kabuki syndrome is not screened for in routine
460:
384:
370:
epigenetic mechanisms in Kabuki syndrome are not yet fully known.
284:
220:
216:
198:
184:
2111:
2055:
625:
Kabuki Syndrome Outcome measures and Biomarkers Consortium (KSOC)
3172:
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2734:
2720:
2695:
2676:
2615:
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2223:
2171:
2082:
2255:
2064:
1991:"Local doctor and patient featured on ABC's The Good Doctor"
876:. Genetics Home Reference, U.S. National Library of Medicine
700:
is an American medical drama television series that airs on
203:
Child displaying typical facial phenotype of Kabuki syndrome
165:
origin. It affects multiple parts of the body, with varying
648:
separately submitted articles on this new diagnosis to the
551:
503:, although these findings are non-specific and have a wide
55:
A child with kabuki syndrome displaying the âscrunchy faceâ
1875:"Kabuki syndrome: diagnostic and treatment considerations"
573:
In the United States, these include Dr. Hans Bjornson at
389:
Individual with Kabuki Syndrome from infancy to adulthood
2101:
656:
reminiscent of the theatrical make-up worn by actors in
605:
566:
Research on Kabuki syndrome is limited due to its low
215:
Overlapping phenotypic features for patients between
2118:
2073:
3239:
3214:
3205:
3136:
3116:
3109:
3089:
3025:
2999:
2983:
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Supporting Aussie Kids with Kabuki Syndrome (SAKKS)
1692:, Seattle (WA): University of Washington, Seattle,
132:
122:
106:
98:
90:
79:
59:
37:
32:
3187:Ectrodactylyâectodermal dysplasiaâcleft syndrome 3
515:A summary of recommended evaluations can be found
2015:"19 Paper Cranes â Global Justice Film Festival"
1721:NORD (National Organization for Rare Disorders)
187:and Type 2 is caused by pathogenic variants in
1741:"Kabuki Syndrome | Boston Children's Hospital"
361:(KDM6A), and play a part in the regulation of
3079:Yemenite deaf-blind hypopigmentation syndrome
2267:
977:Adam MP, Hudgins L, Hannibal M (2019-10-21).
8:
1608:American Journal of Medical Genetics. Part A
1508:American Journal of Medical Genetics. Part A
1465:American Journal of Medical Genetics. Part A
1060:American Journal of Medical Genetics. Part A
936:American Journal of Medical Genetics. Part A
868:
866:
864:
862:
860:
858:
856:
854:
852:
223:variations include prominent ears, abnormal
467:, but still present with a Kabuki syndrome
3211:
3113:
2980:
2529:
2348:
2298:
2274:
2260:
2252:
2119:
180:, a Japanese traditional theatrical form.
70:
29:
3299:Syndromes with craniofacial abnormalities
1965:
1890:
1582:
1319:
1224:
1079:
1027:
793:
346:genes belong to a family of genes called
2683:Posterior polymorphous corneal dystrophy
2513:Autoimmune polyendocrine syndrome type 1
2039:
501:nuchal translucency ultrasound screening
444:Mild to moderate intellectual disability
2874:Anterior segment mesenchymal dysgenesis
1105:
1103:
1101:
1099:
732:
353:. Specifically, these genes code for a
2406:X-linked adrenal hypoplasia congenita
1789:
1787:
1764:Johns Hopkins Medicine (2015-10-07),
1384:
1382:
1380:
1351:
1349:
1347:
1345:
1343:
1341:
1339:
1289:
1287:
1151:
1149:
983:. University of Washington, Seattle.
7:
2458:Greig cephalopolysyndactyly syndrome
1873:Kasdon BD, Fox JE (September 2012).
1427:American Journal of Medical Genetics
1049:
1047:
893:
891:
827:
825:
823:
821:
819:
817:
815:
813:
763:
761:
316:Most cases of Kabuki syndrome occur
2832:Iridogoniodysgenesis, dominant type
745:National Institutes of Health (NIH)
440:persistence of fetal fingertip pads
1205:American Journal of Human Genetics
1008:European Journal of Human Genetics
393:Kabuki syndrome is diagnosed with
128:Clinical findings; genetic testing
25:
741:"Kabuki Syndrome Gene Identified"
2846:Lymphedemaâdistichiasis syndrome
2442:Trichoârhinoâphalangeal syndrome
2416:Familial partial lipodystrophy 3
1879:Mental Health in Family Medicine
46:
3110:(0) Other transcription factors
2401:Estrogen insensitivity syndrome
2369:Androgen insensitivity syndrome
1989:Verner, Brittney (2022-03-07).
1774:from the original on 2021-12-21
606:Manchester University Hospitals
251:, and behavioral difficulties.
2991:Hyperimmunoglobulin E syndrome
2396:PHA1AD pseudohypoaldosteronism
110:Loss-of-function mutations in
1:
3284:Syndromes affecting the heart
3253:Atrichia with papular lesions
1852:10.1016/s0022-3476(81)80255-7
1567:10.1080/15592294.2017.1381807
1404:10.1016/S0022-3476(81)80255-7
1124:10.1136/jmedgenet-2018-105625
913:10.1016/S0022-3476(81)80256-9
577:, The Roya Kabuki Program at
438:Dermatoglyphic abnormalities:
2960:Popliteal pterygium syndrome
2902:Enlarged vestibular aqueduct
2741:Waardenburg syndrome 1&3
2526:(3) Helix-turn-helix domains
2285:relating to deficiencies of
2019:globaljusticefilmfestival.ca
262:), and frequent infections.
3294:Syndromes affecting hearing
3060:Premature ovarian failure 7
2916:Premature ovarian failure 3
2788:Congenital hypothyroidism 2
2083:Association Syndrome Kabuki
1112:Journal of Medical Genetics
671:, from left to right, mean
587:Seattle Children's Hospital
581:, Dr. Mark Hannibal at the
449:Postnatal growth deficiency
3315:
3207:Transcription coregulators
2977:with minor groove contacts
2364:Thyroid hormone resistance
2093:Kabuki Syndrome Foundation
1663:10.1016/j.jgyn.2013.04.005
1312:10.1038/s41436-021-01119-8
1217:10.1016/j.ajhg.2011.11.021
710:is a short documentary by
621:Kabuki Syndrome Foundation
579:Boston Children's Hospital
556:Kabuki Syndrome Foundation
3229:RubinsteinâTaybi syndrome
3055:SRY XY gonadal dysgenesis
2860:BamforthâLazarus syndrome
2472:Duane-radial ray syndrome
2421:SF1 XY gonadal dysgenesis
1840:The Journal of Pediatrics
1745:www.childrenshospital.org
1392:The Journal of Pediatrics
901:The Journal of Pediatrics
591:Kennedy Krieger Institute
489:chorionic villus sampling
355:histone methyltransferase
324:embryological development
54:
45:
3097:Cleidocranial dysostosis
2314:SaethreâChotzen syndrome
602:University of Manchester
575:Johns Hopkins University
313:pattern of inheritance.
296:pattern of inheritance.
229:congenital heart disease
3074:Waardenburg syndrome 4c
2774:Coloboma of optic nerve
2622:Tooth and nail syndrome
2462:PallisterâHall syndrome
2108:Conferences/Gatherings
712:Michael Joseph McDonald
589:, Dr. Jacqui Harris at
585:, Dr. Margaret Adam at
418:Typical facial features
403:whole genome sequencing
288:(formerly known as the
155:NiikawaâKuroki syndrome
41:NiikawaâKuroki syndrome
3017:Ulnarâmammary syndrome
2975:(4) ÎČ-Scaffold factors
2955:Van der Woude syndrome
2487:TownesâBrocks syndrome
2360:Intracellular receptor
2112:Texas Kabuki Gathering
1915:"Niikawa Presentation"
583:University of Michigan
505:differential diagnosis
390:
266:developmental delays.
204:
147:Kabuki-makeup syndrome
18:Kabuki makeup syndrome
3191:Limbâmammary syndrome
3179:RappâHodgkin syndrome
3151:PittâHopkins syndrome
2727:Papillorenal syndrome
2702:MowatâWilson syndrome
2608:Nailâpatella syndrome
2492:Acrocallosal syndrome
1995:WMAR 2 News Baltimore
1020:10.1038/ejhg.2011.220
714:. The film follows a
708:Nineteen Paper Cranes
650:Journal of Pediatrics
614:University of Toronto
430:V Brachymesophalangy
388:
202:
145:(previously known as
3033:Campomelic dysplasia
3012:LiâFraumeni syndrome
2497:Myotonic dystrophy 2
2467:DenysâDrash syndrome
2287:transcription factor
1808:10.1002/ajmg.c.10020
1620:10.1002/ajmg.a.37956
1520:10.1002/ajmg.a.30340
1477:10.1002/ajmg.a.30331
1300:Genetics in Medicine
1072:10.1002/ajmg.a.34074
948:10.1002/ajmg.a.30338
720:Sagamihara stabbings
598:Prof Siddharth Banka
233:feeding difficulties
2827:Axenfeld syndrome 3
2641:Axenfeld syndrome 1
2580:SPD1 synpolydactyly
2345:DNA-binding domains
2102:Roya Kabuki Program
2041:
424:Skeletal anomalies:
359:histone demethylase
348:chromatin-modifying
305:(formerly known as
245:developmental delay
241:joint hypermobility
159:congenital disorder
3183:HayâWells syndrome
3007:HoltâOram syndrome
2769:Gillespie syndrome
2688:Fuchs' dystrophy 3
2566:Currarino syndrome
2204:External resources
2040:
690:In popular culture
391:
294:autosomal dominant
205:
195:Signs and symptoms
136:1 in 32,000 births
3266:
3265:
3262:
3261:
3132:
3131:
3105:
3104:
2970:
2969:
2547:Ohtahara syndrome
2521:
2520:
2391:Kennedy's disease
2338:
2337:
2309:Feingold syndrome
2295:(1) Basic domains
2283:Genetic disorders
2249:
2248:
2117:
2116:
2056:All Things Kabuki
2052:Patient Advocacy
1686:"Kabuki Syndrome"
1614:(12): 3333â3337.
1359:"Kabuki Syndrome"
1262:10.1111/cge.12363
1250:Clinical Genetics
1170:10.1111/cge.12051
1158:Clinical Genetics
874:"Kabuki syndrome"
833:"Kabuki syndrome"
397:(targeted, whole
311:X-linked dominant
256:failure to thrive
140:
139:
124:Diagnostic method
27:Medical condition
16:(Redirected from
3306:
3212:
3114:
2981:
2552:Lissencephaly X2
2530:
2437:Barakat syndrome
2349:
2299:
2276:
2269:
2262:
2253:
2120:
2042:
2029:
2028:
2026:
2025:
2011:
2005:
2004:
2002:
2001:
1986:
1980:
1979:
1969:
1928:
1922:
1921:
1919:
1911:
1905:
1904:
1894:
1870:
1864:
1863:
1834:
1828:
1827:
1791:
1782:
1781:
1780:
1779:
1761:
1755:
1754:
1752:
1751:
1737:
1731:
1730:
1728:
1727:
1713:
1707:
1706:
1705:
1704:
1681:
1675:
1674:
1646:
1640:
1639:
1603:
1597:
1596:
1586:
1546:
1540:
1539:
1503:
1497:
1496:
1460:
1451:
1450:
1422:
1416:
1415:
1386:
1375:
1374:
1353:
1334:
1333:
1323:
1306:(7): 1202â1210.
1291:
1282:
1281:
1245:
1239:
1238:
1228:
1196:
1190:
1189:
1153:
1144:
1143:
1107:
1094:
1093:
1083:
1066:(7): 1511â1516.
1051:
1042:
1041:
1031:
999:
993:
992:
974:
968:
967:
931:
925:
924:
895:
886:
885:
883:
881:
870:
847:
846:
844:
843:
829:
808:
807:
797:
765:
756:
755:
753:
752:
737:
600:'s group at the
481:prenatal testing
272:thrombocytopenia
75:
74:
66:Medical genetics
50:
30:
21:
3314:
3313:
3309:
3308:
3307:
3305:
3304:
3303:
3269:
3268:
3267:
3258:
3235:
3201:
3128:
3124:Kabuki syndrome
3101:
3085:
3021:
2995:
2976:
2966:
2936:
2808:
2708:
2517:
2501:
2446:
2425:
2344:
2343:(2) Zinc finger
2334:
2318:
2290:
2289:or coregulators
2280:
2250:
2245:
2244:
2229:kabuki-syndrome
2218:Kabuki Syndrome
2199:
2198:
2131:
2038:
2033:
2032:
2023:
2021:
2013:
2012:
2008:
1999:
1997:
1988:
1987:
1983:
1938:Nature Genetics
1930:
1929:
1925:
1917:
1913:
1912:
1908:
1872:
1871:
1867:
1836:
1835:
1831:
1793:
1792:
1785:
1777:
1775:
1763:
1762:
1758:
1749:
1747:
1739:
1738:
1734:
1725:
1723:
1715:
1714:
1710:
1702:
1700:
1683:
1682:
1678:
1648:
1647:
1643:
1605:
1604:
1600:
1561:(11): 923â933.
1548:
1547:
1543:
1505:
1504:
1500:
1462:
1461:
1454:
1424:
1423:
1419:
1388:
1387:
1378:
1355:
1354:
1337:
1293:
1292:
1285:
1247:
1246:
1242:
1198:
1197:
1193:
1155:
1154:
1147:
1109:
1108:
1097:
1053:
1052:
1045:
1001:
1000:
996:
980:Kabuki Syndrome
976:
975:
971:
933:
932:
928:
897:
896:
889:
879:
877:
872:
871:
850:
841:
839:
831:
830:
811:
774:Nature Genetics
767:
766:
759:
750:
748:
739:
738:
734:
729:
697:The Good Doctor
692:
667:The individual
633:
564:
547:
538:
513:
477:
457:DNA methylation
434:of fifth digits
395:genetic testing
383:
363:gene expression
336:
334:Pathophysiology
280:
197:
143:Kabuki syndrome
69:
33:Kabuki syndrome
28:
23:
22:
15:
12:
11:
5:
3312:
3310:
3302:
3301:
3296:
3291:
3289:Genodermatoses
3286:
3281:
3279:Rare syndromes
3271:
3270:
3264:
3263:
3260:
3259:
3257:
3256:
3243:
3241:
3237:
3236:
3234:
3233:
3232:
3231:
3218:
3216:
3209:
3203:
3202:
3200:
3199:
3198:
3197:
3169:
3168:
3167:
3155:
3154:
3153:
3140:
3138:
3134:
3133:
3130:
3129:
3127:
3126:
3120:
3118:
3111:
3107:
3106:
3103:
3102:
3100:
3099:
3093:
3091:
3087:
3086:
3084:
3083:
3082:
3081:
3076:
3064:
3063:
3062:
3057:
3045:
3040:
3035:
3029:
3027:
3023:
3022:
3020:
3019:
3014:
3009:
3003:
3001:
2997:
2996:
2994:
2993:
2987:
2985:
2978:
2972:
2971:
2968:
2967:
2965:
2964:
2963:
2962:
2957:
2944:
2942:
2938:
2937:
2935:
2934:
2933:
2932:
2920:
2919:
2918:
2906:
2905:
2904:
2892:
2891:
2890:
2878:
2877:
2876:
2864:
2863:
2862:
2850:
2849:
2848:
2836:
2835:
2834:
2829:
2816:
2814:
2810:
2809:
2807:
2806:
2805:
2804:
2792:
2791:
2790:
2778:
2777:
2776:
2771:
2759:
2758:
2757:
2745:
2744:
2743:
2731:
2730:
2729:
2716:
2714:
2710:
2709:
2707:
2706:
2705:
2704:
2692:
2691:
2690:
2685:
2673:
2672:
2671:
2659:
2658:
2657:
2645:
2644:
2643:
2631:
2630:
2629:
2624:
2612:
2611:
2610:
2598:
2597:
2596:
2584:
2583:
2582:
2570:
2569:
2568:
2556:
2555:
2554:
2549:
2536:
2534:
2527:
2523:
2522:
2519:
2518:
2516:
2515:
2509:
2507:
2503:
2502:
2500:
2499:
2494:
2489:
2484:
2479:
2474:
2469:
2464:
2454:
2452:
2448:
2447:
2445:
2444:
2439:
2433:
2431:
2427:
2426:
2424:
2423:
2418:
2413:
2408:
2403:
2398:
2393:
2388:
2387:
2386:
2381:
2376:
2366:
2355:
2353:
2346:
2340:
2339:
2336:
2335:
2333:
2332:
2330:Tietz syndrome
2326:
2324:
2320:
2319:
2317:
2316:
2311:
2305:
2303:
2296:
2292:
2291:
2281:
2279:
2278:
2271:
2264:
2256:
2247:
2246:
2243:
2242:
2231:
2220:
2208:
2207:
2205:
2201:
2200:
2197:
2196:
2185:
2174:
2163:
2148:
2132:
2127:
2126:
2124:
2123:Classification
2115:
2114:
2109:
2105:
2104:
2099:
2096:
2095:
2090:
2086:
2085:
2080:
2077:
2076:
2071:
2068:
2067:
2062:
2059:
2058:
2053:
2049:
2048:
2045:
2037:
2036:External links
2034:
2031:
2030:
2006:
1981:
1950:10.1038/ng.646
1944:(9): 790â793.
1923:
1906:
1885:(3): 171â179.
1865:
1846:(4): 565â569.
1829:
1783:
1756:
1732:
1708:
1676:
1657:(6): 455â462.
1641:
1598:
1541:
1514:(3): 265â272.
1498:
1471:(3): 234â243.
1452:
1433:(2): 112â120.
1417:
1398:(4): 565â569.
1376:
1335:
1283:
1256:(3): 252â258.
1240:
1211:(1): 119â124.
1191:
1164:(3): 201â211.
1145:
1095:
1043:
1014:(4): 381â388.
994:
969:
942:(3): 263â264.
926:
907:(4): 570â573.
887:
848:
809:
786:10.1038/ng.646
780:(9): 790â793.
757:
731:
730:
728:
725:
724:
723:
705:
691:
688:
632:
629:
563:
560:
546:
543:
541:well-managed.
537:
534:
525:immunoglobulin
521:echocardiogram
512:
509:
497:cystic hygroma
476:
473:
452:
451:
446:
441:
435:
421:
382:
379:
357:(KMT2D) and a
335:
332:
279:
276:
237:cryptorchidism
212:to the mouth.
196:
193:
138:
137:
134:
130:
129:
126:
120:
119:
108:
104:
103:
100:
96:
95:
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88:
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83:
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63:
57:
56:
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51:
43:
42:
39:
35:
34:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
3311:
3300:
3297:
3295:
3292:
3290:
3287:
3285:
3282:
3280:
3277:
3276:
3274:
3254:
3250:
3249:
3245:
3244:
3242:
3238:
3230:
3227:
3226:
3225:
3224:
3220:
3219:
3217:
3213:
3210:
3208:
3204:
3196:
3192:
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3180:
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3160:
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3149:
3148:
3147:
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3142:
3141:
3139:
3135:
3125:
3122:
3121:
3119:
3115:
3112:
3108:
3098:
3095:
3094:
3092:
3088:
3080:
3077:
3075:
3072:
3071:
3070:
3069:
3065:
3061:
3058:
3056:
3053:
3052:
3051:
3050:
3046:
3044:
3041:
3039:
3036:
3034:
3031:
3030:
3028:
3024:
3018:
3015:
3013:
3010:
3008:
3005:
3004:
3002:
2998:
2992:
2989:
2988:
2986:
2982:
2979:
2973:
2961:
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2956:
2953:
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2889:
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2879:
2875:
2872:
2871:
2870:
2869:
2865:
2861:
2858:
2857:
2856:
2855:
2851:
2847:
2844:
2843:
2842:
2841:
2837:
2833:
2830:
2828:
2825:
2824:
2823:
2822:
2818:
2817:
2815:
2811:
2803:
2800:
2799:
2798:
2797:
2793:
2789:
2786:
2785:
2784:
2783:
2779:
2775:
2772:
2770:
2767:
2766:
2765:
2764:
2760:
2756:
2753:
2752:
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2739:
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2737:
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2732:
2728:
2725:
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2723:
2722:
2718:
2717:
2715:
2711:
2703:
2700:
2699:
2698:
2697:
2693:
2689:
2686:
2684:
2681:
2680:
2679:
2678:
2674:
2670:
2667:
2666:
2665:
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2660:
2656:
2653:
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2651:
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2646:
2642:
2639:
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2637:
2636:
2632:
2628:
2625:
2623:
2620:
2619:
2618:
2617:
2613:
2609:
2606:
2605:
2604:
2603:
2599:
2595:
2592:
2591:
2590:
2589:
2585:
2581:
2578:
2577:
2576:
2575:
2571:
2567:
2564:
2563:
2562:
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2557:
2553:
2550:
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2524:
2514:
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2504:
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2422:
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2414:
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2016:
2010:
2007:
1996:
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1982:
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1973:
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1963:
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1943:
1939:
1935:
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1902:
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1537:
1533:
1529:
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1521:
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1513:
1509:
1502:
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685:
680:
676:
672:
666:
662:
654:
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552:Kabuki Count
548:
545:Epidemiology
539:
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432:Clinodactyly
423:
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154:
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2213:GeneReviews
1555:Epigenetics
596:In the UK,
485:blood tests
91:Usual onset
38:Other names
3273:Categories
2189:DiseasesDB
2024:2023-05-27
2000:2023-05-27
1778:2018-04-24
1750:2018-04-24
1726:2018-04-20
1703:2024-02-01
842:2018-04-01
751:2017-10-26
727:References
511:Management
491:(CVS), or
483:including
367:epigenetic
94:Conception
3137:Ungrouped
2089:Research
2065:Kabuki UK
1958:1061-4036
1575:1559-2294
1186:204999137
679:(è), and
660:theatre.
635:In 1969,
568:incidence
536:Prognosis
475:Screening
469:phenotype
381:Diagnosis
249:hypotonia
225:dentition
207:Specific
133:Frequency
61:Specialty
2235:Orphanet
2047:Website
1976:20711175
1901:23997823
1824:39599820
1816:12561059
1772:archived
1698:21882399
1671:23747217
1636:26914645
1628:27568880
1593:28933623
1536:27626946
1528:15690370
1493:42186309
1485:15690368
1371:21882399
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1278:19578396
1270:24527667
1235:22197486
1178:23131014
1140:54484060
1132:30514738
1090:21671394
1038:22126750
989:21882399
964:32831210
956:15523636
880:15 April
804:20711175
610:SickKids
562:Research
499:seen on
209:symptoms
167:symptoms
81:Symptoms
2888:ACD/MPV
2183:C537705
1967:2930028
1892:3622909
1860:7277096
1584:5788422
1447:9741469
1412:7277096
1321:8257478
1226:3257878
1081:3121928
1029:3306863
921:7277097
795:2930028
631:History
351:enzymes
319:de novo
163:genetic
3223:CREBBP
3043:MODY 5
3038:MODY 3
2802:STHAG3
2755:MODY 9
2663:POU3F4
2655:DFNA15
2649:POU4F3
2594:MODY 4
2574:HOXD13
2482:MRX 89
2477:MODY 7
2411:MODY 1
2172:147920
2161:759.89
1974:
1964:
1956:
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658:Kabuki
278:Causes
178:kabuki
107:Causes
68:
3165:TNDM1
3159:ZFP57
3068:SOX10
2924:FOXP3
2910:FOXL2
2896:FOXI1
2882:FOXF1
2868:FOXE3
2854:FOXE1
2840:FOXC2
2821:FOXC1
2669:DFNX2
2635:PITX2
2602:LMX1B
2194:32161
2146:Q87.0
1918:(PDF)
1820:S2CID
1632:S2CID
1532:S2CID
1489:S2CID
1274:S2CID
1182:S2CID
1136:S2CID
960:S2CID
681:skill
677:dance
675:(æ),
669:kanji
465:KDM6A
461:KMT2D
399:exome
375:KMT2D
344:KDM6A
340:KMT2D
302:KDM6A
285:KMT2D
221:KMT2D
217:KDM6A
189:KDM6A
185:KMT2D
153:) or
118:genes
116:KDM6A
112:KMT2D
99:Types
3195:OFC8
3173:TP63
3145:TCF4
3090:4.11
2949:IRF6
2930:IPEX
2796:PAX9
2782:PAX8
2763:PAX6
2749:PAX4
2735:PAX3
2721:PAX2
2696:ZEB2
2677:ZEB1
2627:OFC5
2616:MSX1
2588:PDX1
2560:MNX1
2384:CAIS
2379:MAIS
2374:PAIS
2240:2322
2224:GARD
2178:MeSH
2167:OMIM
2156:9-CM
1972:PMID
1954:ISSN
1897:PMID
1856:PMID
1812:PMID
1800:117C
1694:PMID
1667:PMID
1624:PMID
1589:PMID
1571:ISSN
1524:PMID
1512:132A
1481:PMID
1469:132A
1443:PMID
1408:PMID
1367:PMID
1326:PMID
1266:PMID
1231:PMID
1174:PMID
1128:PMID
1086:PMID
1064:155A
1034:PMID
985:PMID
952:PMID
940:132A
917:PMID
882:2018
800:PMID
716:deaf
673:sing
612:and
604:and
517:here
342:and
338:The
307:UTX)
290:MLL2
219:and
3117:0.6
3049:SF1
3026:4.7
3000:4.3
2984:4.2
2941:3.5
2813:3.3
2713:3.2
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1962:PMC
1946:doi
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1659:doi
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1024:PMC
1016:doi
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