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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease syndromic diarrhea
Comorbidity C0018799|heart disease
Sentences 2
PubMedID- 23267387 Although expanding phenotypes exist among 22q11 ds patients, most clinical features associate the syndrome with congenital heart disease velopharyngal insufficiency, anatomic and/or neuromuscular abnormalities of the palate, dysmorphic faces, immunodeficiency and learning and psychiatric problems.
PubMedID- 20920374 A previously unreported association of the syndrome with congenital heart disease (chd), (in this case membranous ventricular septal defect), is also reported.

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