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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease microphthalmia
Symptom C0155285|orbital cyst
Sentences 3
PubMedID- 25759931 Purpose: the purpose of this study was to report an unusual case of severe microphthalmos, together with an orbital cyst and huge ocular surface dermolipoma.
PubMedID- 23696273 We report a young girl with fdh, microphthalmos associated with colobomatous orbital cyst, dural ectasia and cystic malformation of the spinal cord, and a de novo variant in porcn.
PubMedID- 20689212 Delleman and oorthuys reported the presence of microphthalmos with an orbital cyst in their cases.

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