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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease syndromic diarrhea
Comorbidity C0679466|cognitive deficits
Sentences 2
PubMedID- 21569638 In addition to cognitive deficits, the phenotype of the syndrome include mild facial anomalies (prominent jaw, high forehead, large ears), and macroorchidism.
PubMedID- 24376064 The lack of consensus on treatment may result from systematic differences in the syndrome's characteristics, with spatial cognitive deficits potentially affecting perceptual-attentional "where" or motor-intentional "aiming" spatial processing.

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