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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease 22q11.2 deletion syndrome
Symptom C0152021|congenital heart disease
Sentences 1
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.

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