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Results 1 - 10 of 26 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. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. Greig cephalopolysyndactyly syndrome 
    ... Matthijs G, Bornholdt D, Devriendt K, Grzeschik KH, Fryns JP, Kalff-Suske M. Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families ...
    https://medlineplus.gov/.../greig-cephalopolysyndactyly-syndrome - Genetics
  10. Aarskog-Scott syndrome 
    ... Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, Rinaldi MM, Medeira A, Sorrentino V. Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light ...
    https://medlineplus.gov/genetics/condition/aarskog-scott-syndrome - Genetics
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