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kabuki syndrome - rare congenital disorder with typical facial features
Definition for Kabuki Syndrome
Kabuki syndrome, also previously known as Kabuki makeup syndrome, KMS or Niikawa Kuroki Syndrome, is a very rare pediatric congenital disorder of unknown cause with multiple congenital anomalies and mental retardation.
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Kabuki syndrome, also previously known as Kabuki makeup syndrome, KMS or Niikawa Kuroki Syndrome, is a very rare pediatric congenital disorder of unknown cause with multiple congenital anomalies and mental retardation. It was discovered by two Japanese scientists, Niikawa and Kuroki. It is named Kabuki Syndrome because of the facial resemblance of affected individuals with white Kabuki makeup, a Japanese traditional theatrical form. The name Niikawa-Kuroki Syndrome relates to the two Japanese doctors who first described this syndrome. On the Kabuki Syndrome listserv, children with this syndrome are called Kabuki Kids, or KKs.
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some common symptoms
arched eyebrows
eyelid turned outwards
long eyelashes
long opening between eyelids
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Cornelia de Lange Syndrome
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do i have 'Kabuki Syndrome'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'kabuki syndrome'
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ECHOcardiogram
Kabuki Syndrome and ECHOcardiogram
Hearing test
standard technique of representing hearing loss
Kabuki Syndrome and Hearing test
Ultrasonography kidneys ureter bladder
Kabuki Syndrome and Ultrasonography kidneys ureter bladder
X-rays
Kabuki Syndrome and X-rays
serum glucose
Kabuki Syndrome and serum glucose
Serum T4 free
Kabuki Syndrome and Serum T4 free
Serum TSH
Kabuki Syndrome and Serum TSH
Comprehensive eye exam
Kabuki Syndrome and Comprehensive eye exam
Developmental testing
Kabuki Syndrome and Developmental testing
Growth hormone
Kabuki Syndrome and Growth hormone
Serum T3
Kabuki Syndrome and Serum T3
speech reception threshold (SRT)
Kabuki Syndrome and speech reception threshold (SRT)
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therapeutic procedures for 'Kabuki Syndrome'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Kabuki Syndrome:
therapeutic procedure search results for 'kabuki syndrome'
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Special Education
Kabuki Syndrome and Special Education
Speech Therapy
Kabuki Syndrome and Speech Therapy
Spinal Deformity Correction
Kabuki Syndrome and Spinal Deformity Correction
spinal surgery
Kabuki Syndrome and spinal surgery
medications search results for 'kabuki syndrome'
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web search results for kabuki syndrome
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- Kabuki Syndrome
Kabuki syndrome - Wikipedia, the free encyclopedia
It is named Kabuki Syndrome because of the facial resemblance of affected ... Wikimedia Commons has media related to: Kabuki syndrome ...
http://en.wikipedia.org/wiki/Kabuki_syndrome
en.wikipedia.org
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Kabuki Syndrome - Yahoo! Health
Kabuki Syndrome Network. International network. Founded 1997. ... Kabuki Syndrome Network. 8060 Struthers Cr., Regina. c/o Dean and Margot Schmiedge ...
http://health.yahoo.com/other-other/kabuki-syndrome/healthwise--shc29kab.html
health.yahoo.com
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Kabuki syndrome: a review.
1: Clin Genet. 2005 Mar;67(3):209-19. Kabuki syndrome: a review. Adam MP, Hudgins L. ... Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a ...
http://www.ncbi.nlm.nih.gov/pubmed/15691356
www.ncbi.nlm.nih.gov
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[Kabuki syndrome, a congenital syndrome with multiple anomalies]
The Kabuki syndrome was first described regarding the Japanese population but it ... In a recent publication, 20 Dutch patients with Kabuki syndrome were described. ...
http://www.ncbi.nlm.nih.gov/pubmed/17193989
www.ncbi.nlm.nih.gov
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19174128 2009 01 28 1695-4033 70 1 2009 Jan [Kabuki syndrome in the ...
... 4033 70 1 2009 Jan [Kabuki syndrome in the differential diagnosis of neonatal ... I spa Letter Síndrome de Kabuki en el diagnóstico diferencial de ...
http://www.ncbi.nlm.nih.gov/pubmed/19174128?ordinalpos=5&ito...
www.ncbi.nlm.nih.gov
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The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
BACKGROUND: Kabuki syndrome (KS) is a rare, clinically recognisable, congenital ... Syndrome. Transcription Factors/deficiency. Transcription Factors/genetics ...
http://www.ncbi.nlm.nih.gov/pubmed/17586838?ordinalpos=14&it...
www.ncbi.nlm.nih.gov
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Kabuki syndrome and neonatal cholestasis: report of a new case and ...
Kabuki syndrome and neonatal cholestasis: report of a new case and review of the ... Musculoskeletal Abnormalities/genetics. Syndrome. PMID: 17667726 [PubMed ...
http://www.ncbi.nlm.nih.gov/pubmed/17667726
www.ncbi.nlm.nih.gov
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Ocular manifestations in Kabuki syndrome: the first report from Saudi ...
... of a 5-year-old female patient of Arabic origin with features of Kabuki syndrome. ... ocular features suggestive of Kabuki syndrome included left upper eyelid ...
http://www.ncbi.nlm.nih.gov/pubmed/17701103?ordinalpos=11&it...
www.ncbi.nlm.nih.gov
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No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome
A No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome. ... Male Mental Retardation genetics Mutation Point Mutation Syndrome 20086179020088 ...
http://www.ncbi.nlm.nih.gov/pubmed/18553519?ordinalpos=7&ito...
www.ncbi.nlm.nih.gov
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Developmental outcome in Kabuki syndrome.
1: Am J Med Genet A. 2005 Jan 30;132A(3):263-4. Developmental outcome in Kabuki syndrome. Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L. ...
http://www.ncbi.nlm.nih.gov/pubmed/15523636?ordinalpos=4&ito...
www.ncbi.nlm.nih.gov
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Orphanet: Kabuki syndrome
The portal for rare diseases and orphan drugs ... Kabuki syndrome was named as such by Japanese authors because of the strikingly ...
http://www.orpha.net/static/GB/kabuki_syndrome.html
www.orpha.net
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Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation.
... This is the first report of mosaic 45,X/47,XXX associated with Kabuki syndrome. We emphasize that Kabuki syndrome, a peculiar facial appearance and aortic ...
http://www.ncbi.nlm.nih.gov/pubmed/17953951?ordinalpos=9&ito...
www.ncbi.nlm.nih.gov
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Kabuki (disambiguation) - Wikipedia, the free encyclopedia
Kabuki, a comic book series by artist and writer David Mack. ... Kabuki syndrome, a rare genetic disorder characterised by facial dysmorphism. ...
http://en.wikipedia.org/wiki/Kabuki_(disambiguation)
en.wikipedia.org
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Kabuki Syndrome with additional dental findings: a case report.
Kabuki Syndrome (KS) is a multiple congenital anomalies/mental retardation ... Syndrome. Tooth Abnormalities/diagnosis* Tooth Root/abnormalities ...
http://www.ncbi.nlm.nih.gov/pubmed/18647516?ordinalpos=5&ito...
www.ncbi.nlm.nih.gov
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Encyclopedia K-Kz on Yahoo! Health
Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative ... Kabuki Make-up Syndrome. Kabuki Syndrome. Kallmann Syndrome ...
http://health.yahoo.com/ency/k/
health.yahoo.com
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Oral features in Kabuki make-up Syndrome.
Oral features in Kabuki make-up Syndrome. Spano G, Campus G, Bortone A, ... AIM: Kabuki make-up Syndrome is so named because of the characteristic facies of ...
http://www.ncbi.nlm.nih.gov/pubmed/18844445?ordinalpos=2&ito...
www.ncbi.nlm.nih.gov
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Kabuki Make-up Syndrome
Elsewhere on Yahoo! Health. Exercise. Instant Ab Flatteners ... Tips for Better Sleep. Things You Can Do. Help us improve Yahoo! Health. Send Your feedback ...
http://health.yahoo.com/nervous-overview/kabuki-make-up-synd...
health.yahoo.com
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Talk:Kabuki syndrome - Wikipedia, the free encyclopedia
Talk:Kabuki syndrome. From Wikipedia, the free encyclopedia. Jump to: ... perhaps Kabuki syndrome is the better known. -- apers0n 11:27, 29 June 2006 (UTC) ...
http://en.wikipedia.org/wiki/Talk:Kabuki_syndrome
en.wikipedia.org
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Coarctation of the aorta in Kabuki syndrome.
1: Arch Dis Child. 1994 Jun;70(6):512-4. Coarctation of the aorta in Kabuki syndrome. ... A further 20 unselected children with Kabuki syndrome are presented. ...
http://www.ncbi.nlm.nih.gov/pubmed/8048822
www.ncbi.nlm.nih.gov
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Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.
... These 62 patients with the Kabuki make-up syndrome (KMS) were collected in a ... 58 were Japanese, an indication that the syndrome is fairly common in Japan. ...
http://www.ncbi.nlm.nih.gov/pubmed/3067577?dopt=Abstract
www.ncbi.nlm.nih.gov
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CHARGE Syndrome -- GeneReviews -- NCBI Bookshelf
Kabuki syndrome. ... typical features in Kabuki syndrome (long palpebral fissures with ... Kabuki syndrome usually occurs sporadically. The cause is unknown. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=charge
www.ncbi.nlm.nih.gov
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IRF6-Related Disorders -- GeneReviews -- NCBI Bookshelf
Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients. ... pits and anorectal anomalies in Kabuki syndrome. Am J Med Genet. 1999; 86: ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=vws
www.ncbi.nlm.nih.gov
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CHARGE Syndrome
Kabuki syndrome. Ming et al (2003) reported that phenotypic overlap between CHARGE ... Kabuki syndrome usually occurs. sporadically. The cause is unknown. ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Array-CGH in patients with Kabuki-like phenotype: identification of two ...
... Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized ... and screening this region in the Kabuki-like patients should be considered. ...
http://www.ncbi.nlm.nih.gov/pubmed/18405349?ordinalpos=1&ito...
www.ncbi.nlm.nih.gov
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Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits ...
... and hypogammaglobulinemia A in Kabuki syndrome: a rare combination. ... a rare combination of anomalies in an Egyptian girl with Kabuki syndrome (KS) ...
http://www.ncbi.nlm.nih.gov/pubmed/18990987?ordinalpos=27&it...
www.ncbi.nlm.nih.gov
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The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the ...
The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 ... The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. and ...
http://www.ncbi.nlm.nih.gov/pubmed/8088300
www.ncbi.nlm.nih.gov
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Congenital Diaphragmatic Hernia Overview -- GeneReviews -- NCBI Bookshelf
Denys-Drash syndrome. ... Donnai-Barrow syndrome (also known as diaphragmatic hernia, exomphalus, absent ... Kabuki syndrome ...
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?indexed=google&rid=gene.chapter.cdh-ov
www.ncbi.nlm.nih.gov
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Emanuel Syndrome -- GeneReviews -- NCBI Bookshelf
Figure 2. Four individuals with Emanuel syndrome. ( more... Pallister-Killian syndrome. Kabuki syndrome. Wolf-Hirschhorn syndrome ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=emanuel
www.ncbi.nlm.nih.gov
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Williams Syndrome -- GeneReviews -- NCBI Bookshelf
Williams syndrome is transmitted in an autosomal dominant manner. ... syndrome), Smith-Magenis syndrome, Kabuki syndrome, and fetal alcohol syndrome (FAS) ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=williams
www.ncbi.nlm.nih.gov
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Distal epiphysis of proximal phalanx of right third toe(Head of ...
BACKGROUND: Ellis-van Creveld (EvC) syndrome is characterized by short limbs, ... Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome. ...
http://www.nextbio.com/b/home/home.nb?q=Head+of+proximal+pha...
www.nextbio.com
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Double Aortic Arch: An Unreported Anomaly with Kabuki Syndrome
82-4 Kabuki syndrome is a rare congenital disorder characterized by mental ... are the most frequent visceral anomalies found in children with Kabuki syndrome. ...
http://www.ncbi.nlm.nih.gov/pubmed/18685799?ordinalpos=3&ito...
www.ncbi.nlm.nih.gov
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KMS - Wikipedia, the free encyclopedia
Kabuki syndrome, (via Kabuki make-up syndrome) Kasabach-Merritt syndrome ... KMS (hypertext), the Knowledge Management System hypertext system. Kriegsmarine Ship ...
http://en.wikipedia.org/wiki/KMS
en.wikipedia.org
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OMIM Update List for January, 2001
147920 KABUKI SYNDROME. 164500 SPINOCEREBELLAR ATAXIA 7; SCA7 ... 134600 FANCONI RENOTUBULAR SYNDROME ... 180860 RUSSELL-SILVER SYNDROME; RSS ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?1.2001
www.ncbi.nlm.nih.gov
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OMIM Update List for January, 2004
147920 KABUKI SYNDROME. 150699 LEIOMYOMA, UTERINE. 152200 APOLIPOPROTEIN(a); LPA ... 147920 KABUKI SYNDROME. 150330 LAMIN A/C; LMNA. 175700 GREIG ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?1.2004
www.ncbi.nlm.nih.gov
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OMIM Update List for October, 2006
147920 KABUKI SYNDROME. 150340 LAMIN B1; LMNB1. 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE ... Clinical Synopsis for 601808 CHROMOSOME 18q DELETION SYNDROME ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?10.2006
www.ncbi.nlm.nih.gov
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OMIM Update List for March, 2003
147920 KABUKI SYNDROME. 153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2 ... 147920 KABUKI SYNDROME. 182290 SMITH-MAGENIS SYNDROME; SMS ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2003
www.ncbi.nlm.nih.gov
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OMIM Update List for July, 2005
602522 BARTTER SYNDROME, INFANTILE, WITH ... 147920 KABUKI SYNDROME ... 147920 KABUKI SYNDROME. 153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?7.2005
www.ncbi.nlm.nih.gov
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Emanuel Syndrome
Emanuel syndrome is caused by a chromosome imbalance consisting of ... Pallister-Killian syndrome. Kabuki syndrome. Wolf-Hirschhorn syndrome ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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List of congenital disorders - Wikipedia, the free encyclopedia
Congenital Central Hypoventilation Syndrome ... Kabuki syndrome [edit] L. Larsen syndrome. Laurence-Moon syndrome. Lissencephaly [edit] M ...
http://en.wikipedia.org/wiki/List_of_congenital_disorders
en.wikipedia.org
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17174498 2007 05 07 2007 07 24 0387-7604 29 6 2007 Jul Brain Dev. A ...
A case of Kabuki syndrome presenting West syndrome. ... We must pay attention to the occurrence of West syndrome in Kabuki syndrome. ...
http://www.ncbi.nlm.nih.gov/pubmed/17174498
www.ncbi.nlm.nih.gov
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147920
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147920
www.ncbi.nlm.nih.gov
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OMIM Update List for October, 1999
601462 MYASTHENIC SYNDROME, SLOW-CHANNEL ... 181270 SCALP-EAR-NIPPLE SYNDROME ... 147920 KABUKI SYNDROME. 211900 CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?10.1999
www.ncbi.nlm.nih.gov
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OMIM Update List for August, 2006
606170 GENITOPATELLAR SYNDROME ... 9q SUBTELOMERIC DELETION SYNDROME ... 147920 KABUKI SYNDROME. 160700 MYOPIA 2; MYP2. 166200 OSTEOGENESIS IMPERFECTA, TYPE I ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?8.2006
www.ncbi.nlm.nih.gov
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X-linked recessive - Wikipedia, the free encyclopedia
Kabuki syndrome; multiple congenital anomalies and mental retardation. ... amino acid: Ornithine transcarbamylase deficiency · Oculocerebrorenal syndrome ...
http://en.wikipedia.org/wiki/X-linked_recessive
en.wikipedia.org
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PMID 7727492
77-84 Eight cases of Kabuki syndrome in non-Japanese patients are presented. ( Although the name Kabuki Make-up syndrome has been used to identify this ...
http://www.ncbi.nlm.nih.gov/pubmed/7727492
www.ncbi.nlm.nih.gov
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OMIM Update List for December, 2002
Clinical Synopsis for 312830 SCARF SYNDROME ... GIEDION MIDFACE-RETRACTION SYNDROME ... 147920 KABUKI SYNDROME. 149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?12.2002
www.ncbi.nlm.nih.gov
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OMIM Update List for December, 2005
209900 BARDET-BIEDL SYNDROME; BBS ... 603543 LIMB-MAMMARY SYNDROME; LMS. 604867 TASTE RECEPTOR, TYPE 2, MEMBER ... Clinical Synopsis for 147920 KABUKI SYNDROME ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?12.2005
www.ncbi.nlm.nih.gov
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OMIM Update List for February, 2000
147920 KABUKI SYNDROME. 153400 LYMPHEDEMA WITH DISTICHIASIS. 159550 MYELOCEREBELLAR DISORDER ... 602667 NIJMEGEN BREAKAGE SYNDROME GENE; NBS1 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?2.2000
www.ncbi.nlm.nih.gov
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OMIM Update List for May, 1999
... HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME ... 147920 KABUKI SYNDROME. 149750 LACTALBUMIN, ALPHA; LALBA. 150220 LACTOSE INTOLERANCE, CONGENITAL ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?5.1999
www.ncbi.nlm.nih.gov
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OMIM Update List for July, 2004
147920 KABUKI SYNDROME. 150600 LEGG-CALVE-PERTHES DISEASE ... 147920 KABUKI SYNDROME. 152430 LONGEVITY. 163729 NITRIC OXIDE SYNTHASE 3; NOS3 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?7.2004
www.ncbi.nlm.nih.gov
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