eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | 22q11.2 deletion syndrome |
| Comorbidity | C0152021|congenital heart disease |
| Sentences | 6 |
| PubMedID- 21738851 | digeorge syndrome presents with micrognathia, congenital heart disease, hypocalcemia, seizure, and cellular immunodeficiency because of anomalies in the thymus, parathyroid and great vessels [3]. |
| PubMedID- 24596813 | Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome. |
| PubMedID- 21763005 | Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study. |
| PubMedID- 24880467 | Molecular screening for 22q11.2 deletion syndrome in patients with congenital heart disease. |
| PubMedID- 21257016 | Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome. |
| PubMedID- 25317860 | Background: to alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2ds) in patients with congenital heart disease (chd). |
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