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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease syndromic diarrhea
Comorbidity C0036439|scoliosis
Sentences 2
PubMedID- 24052722 Additionally, ocular abnormalities, lipid storage myopathy, and skeletal system abnormalities such as pectus excavatum, joint hyperextensibility and scoliosis are common manifestations of the syndrome [5].
PubMedID- 21639936 Even her slight scoliosis may be part of the syndrome, although the finding could be coincidental and independent from the mosaicism.

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