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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease microphthalmia
Comorbidity C0023316|lens subluxation
Sentences 1
PubMedID- 21465164 Two distinct ocular phenotypes exist: (1) cysts that originate from the posterior iris, temporal ciliary body, and/or peripheral retina (cyst phenotype), and (2) cysts in combination with additional ocular defects including iridocorneal angle abnormalities, cornea globosa, iris hypoplasia, congenital cataracts, lens subluxation, focal areas of retinal detachment, microphthalmia, and macropalpebral fissures (mcoa phenotype).

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