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Results 1 - 10 of 159 for Overgrowth syndrome
  1. DNMT3A overgrowth syndrome 
    DNMT3A overgrowth syndrome is a disorder characterized by faster than normal growth before and after birth, subtle differences in facial features, and intellectual disability.Individuals with DNMT3A overgrowth syndrome are often longer than normal at birth and ...
    https://medlineplus.gov/.../condition/dnmt3a-overgrowth-syndrome - Genetics
  2. Simpson-Golabi-Behmel syndrome 
    ... in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger ... with Simpson-Golabi-Behmel syndrome. DGSX Mental retardation-overgrowth syndrome SDYS SGBS SGBS1 Simpson dysplasia syndrome Simpson syndrome ...
    https://medlineplus.gov/.../condition/simpson-golabi-behmel-syndrome - Genetics
  3. DNMT3A gene 
    ... DNMT3A gene have been found to cause DNMT3A overgrowth syndrome. This condition is characterized by faster than normal ... intellectual disability.DNMT3A gene mutations that cause DNMT3A overgrowth syndrome are found in all of the body's ...
    https://medlineplus.gov/genetics/gene/dnmt3a - Genetics
  4. PDGFRB gene 
    ... a variety of disorders including infantile myofibromatosis; Kosaki overgrowth syndrome; and premature aging syndrome, Penttinen type.Infantile myofibromatosis ...
    https://medlineplus.gov/genetics/gene/pdgfrb - Genetics
  5. Weaver syndrome 
    ... PubMed Central Neylon OM, Werther GA, Sabin MA. Overgrowth syndromes. Curr Opin Pediatr. 2012 Aug;24(4):505- ... L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Am ...
    https://medlineplus.gov/genetics/condition/weaver-syndrome - Genetics
  6. Sotos syndrome 
    ... on PubMed Lapunzina P. Risk of tumorigenesis in overgrowth syndromes: a comprehensive review. Am J Med Genet C ... Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. ...
    https://medlineplus.gov/genetics/condition/sotos-syndrome - Genetics
  7. Klippel-Trenaunay syndrome 
    ... vessels.Klippel-Trenaunay syndrome is one of several overgrowth syndromes, including megalencephaly-capillary malformation syndrome, that are caused ... these conditions are known as the PIK3CA-related overgrowth spectrum ... with Klippel-Trenaunay syndrome has a mutation in the PIK3CA gene, it ...
    https://medlineplus.gov/.../condition/klippel-trenaunay-syndrome - Genetics
  8. Megalencephaly-capillary malformation syndrome 
    ... characteristic of MCAP.MCAP is one of several overgrowth syndromes, including Klippel-Trenaunay syndrome, that are caused by ... malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus ... of brain overgrowth and abnormal brain and body morphogenesis. Am J ...
    https://medlineplus.gov/...encephaly-capillary-malformation-syndrome - Genetics
  9. NSD1 gene 
    ... N, Esteller M. Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and ... Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. ... in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. ...
    https://medlineplus.gov/genetics/gene/nsd1 - Genetics
  10. GPC3 gene 
    ... Behmel syndrome. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger ... proliferation accounts, at least in part, for the overgrowth that occurs in Simpson-Golabi-Behmel syndrome. It is unclear how changes in hedgehog signaling ...
    https://medlineplus.gov/genetics/gene/gpc3 - Genetics
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