Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a rare congenital disorder of genetic origin. It affects...

for "kabuki" on Wikipedia. Kabuki syndrome, a rare genetic disorder characterised by facial dysmorphism All pages with titles beginning with Kabuki All...

altered mitochondrial function such as MELAS, Vogt-Koyanagi-Harada syndrome, Kabuki syndrome are associated with increased risk of vitiligo. In line with these...

Wiedemann–Steiner syndrome who were initially mis-diagnosed with Kabuki syndrome. There is no specific cure or treatment for Wiedemann–Steiner syndrome. Children...

syndrome Jerusalem syndrome Kabuki syndrome Kallmann syndrome Kapur–Toriello syndrome Karak syndrome Karsch-Neugebauer syndrome Kartagener's syndrome...

patent ductus arteriosus. The syndrome has a characteristic facial appearance which is similar to that of Kabuki syndrome, including prominent, downward-displaced...

suppression. Mutations in KMT2D cause human genetic conditions including Kabuki syndrome, another distinct congenital malformations disorder and various forms...

irradiation and have been documented to underlie certain clinical syndromes, notably Kabuki syndrome. The formation of dicentric chromosomes and their implications...

hypotrichosis, hypodontia Kabuki syndrome (the KDM6A variant); multiple congenital anomalies and intellectual disability. Lesch–Nyhan syndrome; neurologic dysfunction...

Health Exercise Nutrition Kabuki syndrome Kalam–Hafeez syndrome Kaler–Garrity–Stern syndrome Kallikrein hypertension Kallmann syndrome with Spastic paraplegia...

also known for his extensive research on Kabuki Syndrome. He has been declared as the Ambassador of Kabuki syndrome and received the 2019 Ambassador Day award...

Pierre-Robin syndrome Isotretinoin-like syndrome Kabuki syndrome Keppen-Lubinsky syndrome Knobloch syndrome 2 Langer-Giedion syndrome Larsen-like syndrome, B3GAT3...

dysplasia Ivemark syndrome Jacobsen syndrome Katz syndrome Klinefelter syndrome Kabuki syndrome Kyphosis Larsen syndrome Laurence–Moon syndrome Lissencephaly...

kinase-like 5 (CDKL5), Duchenne Muscular Dystrophy, Gastroschisis, Kabuki Syndrome, Lyme Disease, Lymphoma, Muscular Dystrophy, Non-Hodgkin's Lymphoma...

Beckwith-Wiedemann syndrome (BWS), an overgrowth syndrome is a well-recognized form of syndromic HI. Other syndromes that commonly feature HI include Kabuki syndrome and...

Rett-like syndromes. Pitt-Hopkins syndrome is clinically similar to Angelman syndrome, Rett-syndrome, Mowat Wilson syndrome, and ATR-X syndrome. As more...

who discovered an autosomal dominant disorder, Kabuki syndrome, also known as Niikawa-Kuroki syndrome. Niikawa made an important contribution in the field...

Heyn–Sproul–Jackson syndrome, Kabuki syndrome, Luscan-Lumish syndrome, Malan syndrome, Sotos syndrome and Tatton-Brown–Rahman syndrome. There is no consensus...

those affected, the syndrome causes curly hair. The facial appearance has been noted to resemble that of Kabuki syndrome. The syndrome typically results...

0.6 Kabuki syndrome...

XL-dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome) Hennekam lymphangiectasia-lymphedema syndrome Kabuki syndrome MTHFD1 deficiency STAT5b deficiency IKAROS...

syndromes) chromosomal rearrangements gene mutations (monogenic malformative diseases) Kabuki mask syndrome: MLL2 Joubert syndrome, Meckel syndrome and...

Joseph McDonald. The film follows a deaf Japanese papermaker with Kabuki syndrome as she memorializes the nineteen victims of the Sagamihara stabbings...

Lynch SA, Ashcroft KA, Zwolinski S, Clarke C, Burn J (March 1995). "Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome...

a set of characteristic physiological features which define whether a syndrome is a ciliopathy. Although ciliopathies are usually considered to involve...

Herlitz syndrome, lethal junctional epidermolysis bullosa) Junctional epidermolysis bullosa with pyloric atresia Kabuki syndrome (Kabuki makeup syndrome, Niikawa–Kuroki...

Syndromic microphthalmia is a class of rare congenital anomalies characterized by microphthalmia along with other non-ocular malformations. Syndromic...

pathway. Point mutations of KDM6A have been identified as one cause of Kabuki syndrome, a congenital disorder resulting in intellectual disability. Deletion...

Highmore as Shaun Murphy, a young autistic surgical resident with savant syndrome, alongside Nicholas Gonzalez, Antonia Thomas, Chuku Modu, Beau Garrett...

dysplasia Kabuki syndrome maturity onset diabetes of the young type 3 methylmalonic acidemia narcolepsy nonsyndromic deafness Noonan syndrome Parkinson...