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Results 1 - 10 of 50 for fryns syndrome
  1. Fryns syndrome 
    Fryns syndrome is a condition that affects the development of many parts of the body. Most people with Fryns syndrome have a defect in the muscle that separates ...
    https://medlineplus.gov/genetics/condition/fryns-syndrome - Genetics
  2. Lujan syndrome 
    ... X-linked traits to their sons. LFS Lujan-Fryns syndrome X-linked intellectual deficit with marfanoid habitus X- ... X-linked intellectual disability with marfanoid habitus Lujan-Fryns syndrome National Organization for Rare Disorders (NORD) INTELLECTUAL DEVELOPMENTAL ...
    https://medlineplus.gov/genetics/condition/lujan-syndrome - Genetics
  3. PIGN gene 
    ... the PIGN gene have been found to cause Fryns syndrome in some people. This condition affects the development ... many parts of the body. Most people with Fryns syndrome have a defect in the muscle that separates ...
    https://medlineplus.gov/genetics/gene/pign - Genetics
  4. Baraitser-Winter syndrome 
    ... their family. BRWS Cerebro-frontofacial syndrome, type 3 Fryns-Aftimos syndrome Iris coloboma with ptosis, hypertelorism, and mental retardation ... JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, ... ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26;44(4):440- ...
    https://medlineplus.gov/genetics/condition/baraitser-winter-syndrome - Genetics
  5. Congenital diaphragmatic hernia 
    ... body systems, called a syndrome. Donnai-Barrow syndrome, Fryns syndrome, and Pallister-Killian mosaic syndrome are among several ...
    https://medlineplus.gov/.../congenital-diaphragmatic-hernia - Genetics
  6. Pfeiffer syndrome 
    ... 2005.05.002. Citation on PubMed Vogels A, Fryns JP. Pfeiffer syndrome. Orphanet J Rare Dis. 2006 Jun 1;1: ...
    https://medlineplus.gov/genetics/condition/pfeiffer-syndrome - Genetics
  7. Angelman syndrome 
    ... Free article on PubMed Central Van Buggenhout G, Fryns JP. Angelman syndrome (AS, MIM 105830). Eur J Hum Genet. 2009 ...
    https://medlineplus.gov/genetics/condition/angelman-syndrome - Genetics
  8. 47,XYY syndrome 
    ... article on PubMed Central Geerts M, Steyaert J, Fryns JP. The XYY syndrome: a follow-up study on 38 boys. Genet ...
    https://medlineplus.gov/genetics/condition/47xyy-syndrome - Genetics
  9. VPS13B gene 
    ... R, Kivitie-Kallio S, Norio R, Warburg M, Fryns JP, de la Chapelle A, Lehesjoki AE. Cohen syndrome is caused by mutations in a novel gene, ...
    https://medlineplus.gov/genetics/gene/vps13b - Genetics
  10. Cohen syndrome 
    ... R, Kivitie-Kallio S, Norio R, Warburg M, Fryns JP, de la Chapelle A, Lehesjoki AE. Cohen syndrome is caused by mutations in a novel gene, ...
    https://medlineplus.gov/genetics/condition/cohen-syndrome - Genetics
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