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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease syndromic diarrhea
Comorbidity C0086543|cataracts
Sentences 2
PubMedID- 24363941 According to some researchers, cases with advanced growth retardation, skeletal anomalies, and ectodermal dysplasia, but without cataracts, constitute a subgroup of the syndrome, and mental retardation is seen prevalently in this subgroup [1, 4–6].
PubMedID- 21694785 Although the most commonly associated ocular pathology is age-related macular degeneration, the syndrome has been associated with cataracts, glaucoma, diabetic retinopathy and retinitis pigmentosa (as in this patient).

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