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Results 1 - 8 of 8 for Diaphragmatic hernia 3
  1. Congenital diaphragmatic hernia 
    ... Testing Registry: Diaphragmatic hernia 2 Genetic Testing Registry: Diaphragmatic hernia 3 Congenital diaphragmatic hernia National Organization for Rare Disorders ( ...
    https://medlineplus.gov/.../congenital-diaphragmatic-hernia - Genetics
  2. Fryns syndrome 
    ... an autosomal recessive disorder associated with craniofacial anomalies, ... Am J Med Genet A. 2005 Dec 15;139(3):186-93. doi: 10.1002/ajmg.a.31023. ...
    https://medlineplus.gov/genetics/condition/fryns-syndrome - Genetics
  3. Donnai-Barrow syndrome 
    ... FOAR syndrome Diaphragmatic hernia-exomphalos-corpus callosum agenesis Diaphragmatic hernia-exomphalos-hypertelorism syndrome Faciooculoacousticorenal ... Calvas P, Saura R, Bieth E. Donnai-Barrow syndrome: four additional patients. Am J Med Genet A. 2003 Sep 1;121A(3):258-62. doi: 10.1002/ajmg.a.20266. ...
    https://medlineplus.gov/genetics/condition/donnai-barrow-syndrome - Genetics
  4. PIGN gene 
    ... diaphragm). The most common defect is a congenital diaphragmatic hernia, which is a hole in the diaphragm that ... with MCAHS1 typically do not have a congenital diaphragmatic hernia. Many of the PIGN gene variants that cause ...
    https://medlineplus.gov/genetics/gene/pign - Genetics
  5. Simpson-Golabi-Behmel syndrome 
    ... hernia), or a hole in the diaphragm (a diaphragmatic hernia) that allows the stomach and intestines to move ... provides instructions for making a protein called glypican 3, which blocks (inhibits) a developmental pathway called the ...
    https://medlineplus.gov/.../condition/simpson-golabi-behmel-syndrome - Genetics
  6. White-Sutton syndrome 
    ... chest cavity (the diaphragm), which is called a diaphragmatic hernia. The prevalence of White-Sutton syndrome is unknown. ... Spectrum Disorders. Am J Hum Genet. 2016 Mar 3;98(3):541-552. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/condition/white-sutton-syndrome - Genetics
  7. Pallister-Killian mosaic syndrome 
    ... of affected infants are born with a congenital diaphragmatic hernia, which is a hole in the muscle that ... Am J Med Genet A. 2009 Mar;149A(3):510-4. doi: 10.1002/ajmg.a.32681. ...
    https://medlineplus.gov/.../pallister-killian-mosaic-syndrome - Genetics
  8. WT1 gene 
    ... cavity (the diaphragm), which is called a congenital diaphragmatic hernia. Meacham syndrome is typically fatal in infancy. Approximately ... an update. Adv Anat Pathol. 2014 May;21(3):166-73. doi: 10.1097/PAP.0000000000000017. Citation ...
    https://medlineplus.gov/genetics/gene/wt1 - Genetics