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Results 1 - 10 of 188 for Van der would syndrome
  1. Van der Woude syndrome 
    Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with either a cleft lip or a cleft ...
    https://medlineplus.gov/genetics/condition/van-der-woude-syndrome - Genetics
  2. 7q11.23 duplication syndrome 
    ... 23 duplication syndrome Dup(7)(q11.23) Somerville-Van der Aa syndrome Trisomy 7q11.23 WBS duplication syndrome Williams-Beuren ...
    https://medlineplus.gov/.../condition/7q1123-duplication-syndrome - Genetics
  3. Osteogenesis imperfecta 
    Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People ...
    https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta - Genetics
  4. ADNP syndrome 
    ... congenital anomalies-intellectual disability-autism spectrum disorder Helsmoortel-van der Aa syndrome HVDAS Mental retardation, autosomal dominant 28 MRD28 Genetic ...
    https://medlineplus.gov/genetics/condition/adnp-syndrome - Genetics
  5. IRF6 gene 
    ... Health Condition Variants in the IRF6 gene cause van der Woude syndrome. This condition affects the development of the face ... These abnormalities underlie the signs and symptoms of van der Woude syndrome. More About This Health Condition Certain variations in ...
    https://medlineplus.gov/genetics/gene/irf6 - Genetics
  6. Cleft Lip and Palate (National Library of Medicine)  
    Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during pregnancy. A baby can have ...
    https://medlineplus.gov/cleftlipandpalate.html - Health Topics
  7. Popliteal pterygium syndrome 
    ... Dixon MJ, Murray JC. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002 Oct;32(2):285-9. ...
    https://medlineplus.gov/.../condition/popliteal-pterygium-syndrome - Genetics
  8. Noonan syndrome 
    ... 2007 Feb;39(2):276. Citation on PubMed van der Burgt I. Noonan syndrome. Orphanet J Rare Dis. 2007 Jan 14;2: ... Scheffer H, Gros P, Costa JL, Tartaglia M, van der Burgt I, Yntema HG, den ... clinically related to Noonan syndrome. Eur J Hum Genet. 2015 Mar;23(3): ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  9. 3-M syndrome 
    ... van der Wal G, Otten BJ, Brunner HG, van der Burgt I. 3-M syndrome: description of six new patients with review of ...
    https://medlineplus.gov/genetics/condition/3-m-syndrome - Genetics
  10. Mevalonate kinase deficiency 
    ... doi: 10.1002/humu.20361. Citation on PubMed van der Hilst JC, Frenkel J. Hyperimmunoglobulin D syndrome in childhood. Curr Rheumatol Rep. 2010 Apr;12( ...
    https://medlineplus.gov/.../condition/mevalonate-kinase-deficiency - Genetics
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