Kabuki syndrome
Kabuki syndrome (also previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a congenital disorder of genetic origin. It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance.
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CDK13-related disorderChromosome 12CiliopathyDemethylaseDicentric chromosomeGiuseppe MerlaGreen ribbonKDM6BKMSKMT2DKabuki (disambiguation)Kabuki SyndromeKabuki make-up syndromeKabuki make up syndromeKabuki makeup syndromeList of congenital disordersList of diseases (K)List of primary immunodeficienciesList of skin conditionsList of syndromesNaomichi MatsumotoNiikawa-Kuroki SyndromeNiikawa-Kuroki syndromeNiikawa–Kuroki syndromeNorio NiikawaOkamoto syndromeSyndromes affecting the heartWiedemann–Steiner syndromeX-linked recessive inheritance
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Kabuki syndrome
Kabuki syndrome (also previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a congenital disorder of genetic origin. It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance.
has abstract
Das Kabuki-Syndrom (früher auc ...... en Familien beanstandet wurde.
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El Síndrome de Kabuki, también ...... o KK (Kabuki Kids, en inglés).
@es
Het kabukisyndroom is een zeld ...... de acteurs daarbij gebruiken.
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Kabuki syndrome (also previous ...... e traditional theatrical form.
@en
La sindrome Kabuki o sindrome ...... ro giapponese kabuki, il (見得).
@it
Le syndrome de Niikawa-Kuroki, ...... théâtre traditionnel japonais.
@fr
Zespół Kabuki typu 2 (zespół m ...... iego teatru Kabuki (Kumadori).
@pl
متلازمة كابوكي (بالإنجليزية: K ...... متلازمة كابوكي Kabuki Syndrome
@ar
歌舞伎化妆综合征是一种罕见的,1981年由两位日本学者新川和 ...... ;发育迟缓。一些患者婴幼儿时容易感染,部分人还会有内脏畸形。
@zh
歌舞伎症候群(英:Kabuki syndrome)は常染色体 ...... 名がある。頻度は約32,000人に1人という稀な疾患である。
@ja
DiseasesDB
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geneReviewsName
Kabuki Syndrome
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GARDName
kabuki-syndrome
GARDNum
ICD10
ICD9
MeSH ID
OMIM id
symptoms
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1,021,770,995
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align
center
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caption
A child with kabuki syndrome displaying the “scrunchy face”
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Individuals with Kabuki syndrome
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causes
Loss-of-function mutations in KMT2D or KDM6A genes
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diagnosis
Clinical findings; genetic testing
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direction
vertical
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DiseasesDB
frequency
GARDName
kabuki-syndrome
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GARDNum
GeneReviewsName
Kabuki Syndrome
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GeneReviewsNBK
NBK62111
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ICD
image
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MeshID
name
Kabuki syndrome
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OMIM
onset
Conception
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Orphanet
symptoms
Vary widely among patients but ...... erty, scoliosis, hip dysplasia
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synonyms
Niikawa–Kuroki syndrome
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total width
types
Type 1 , type 2 ; other rare mutations unrecognized for now
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Das Kabuki-Syndrom (früher auc ...... en Familien beanstandet wurde.
@de
El Síndrome de Kabuki, también ...... i" o KK (Kabuki Kids, en inglé
@es
Het kabukisyndroom is een zeld ...... de acteurs daarbij gebruiken.
@nl
Kabuki syndrome (also previous ...... racteristic facial appearance.
@en
La sindrome Kabuki o sindrome ...... ro giapponese kabuki, il (見得).
@it
Le syndrome de Niikawa-Kuroki, ...... rcissement du cinquième doigt.
@fr
Zespół Kabuki typu 2 (zespół m ...... iego teatru Kabuki (Kumadori).
@pl
متلازمة كابوكي (بالإنجليزية: K ...... لذلك سميّت بمتلازمة الماكياج ا
@ar
歌舞伎化妆综合征是一种罕见的,1981年由两位日本学者新川和 ...... ;发育迟缓。一些患者婴幼儿时容易感染,部分人还会有内脏畸形。
@zh
歌舞伎症候群(英:Kabuki syndrome)は常染色体 ...... 名がある。頻度は約32,000人に1人という稀な疾患である。
@ja
label
Kabuki syndrome
@en
Kabuki-Syndrom
@de
Kabukisyndroom
@nl
Sindrome Kabuki
@it
Syndrome de Niikawa-Kuroki
@fr
Síndrome de Kabuki
@es
Zespół Kabuki
@pl
متلازمة كابوكي
@ar
歌舞伎化妆综合征
@zh
歌舞伎症候群
@ja
sameAs
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name
Kabuki syndrome
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