eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | c syndrome |
| Comorbidity | C0152021|congenital heart disease |
| Sentences | 2 |
| PubMedID- 26040324 | Conclusions: taken together, we finalized the diagnosis for this family as x-linked hypophosphatemia (xlh), and diagnosed this girl as marfan syndrome combined with xlh, and congenital heart disease. |
| PubMedID- 26413101 | Genetic syndromes associated with congenital heart disease. |
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