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CHDEPCC:09.15.07

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Aortic regurgitation - congenital

  Chromosomal map of CHD genes and imbalances.

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External references for Aortic regurgitation - congenital

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Genes for phenotype 09.15.07:Aortic regurgitation - congenital

Non-syndromic

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Syndromic

  
 FLNA edit association
  • Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
  • References: PMID:20730588 (population study with screening of similar CHD patients and normal controls modify)
  • Syndromes: X-linked dominant periventricular heterotopia (OMIM:300049): hemizygous males tend to die in utero. Affected females usually present with epilepsy, but have normal intelligence. Additional features include defects of the cardiovascular system, such as patent ductus arteriosus, bicuspid aortic valve, and dilation of the sinuses of Valsalva or the thoracic aorta.
  • Incidence:
  • Comments:
  • Studies: (1)
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Regions for phenotype 09.15.07:Aortic regurgitation - congenital

Region Patients References OMIM Comments

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Translocations 09.15.07:Aortic regurgitation - congenital

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Patients reports for 09.15.07:Aortic regurgitation - congenital

  • case 9 Clinical data Phenotype


Automated text-mining genes found for 09.15.07:Aortic regurgitation - congenital

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This page contributors

  • Jeroen Breckpot - CME Leuven (Belgium) (association, mutation, study)


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