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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease 22q11.2 deletion syndrome
Comorbidity C0020626|hypoparathyroidism
Sentences 1
PubMedID- 22459608 The most frequent clinical manifestations are congenital cardiac defects, characteristic facies, palate malformations, hypoparathyroidism, immunodeficiency due to thymic hypoplasia, growth retardation, and behavioural and psychiatric problems.

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