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"Microphthalmia," "isolated," with coloboma 10
- ... autosomal recessive, or X-linked. Congenital ocular coloboma Microphthalmia, isolated, with coloboma Ocular coloboma Uveoretinal coloboma Genetic Testing Registry: Congenital ...
- ... in a family. Microphthalmos Genetic Testing Registry: Microphthalmia Isolated microphthalmia-anophthalmia-coloboma National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
- ... with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. Erratum ...
- ... also have other eye abnormalities including small eyes (microphthalmia), a notched or partially absent upper eyelid (upper eyelid coloboma), eyelids that are attached to the front surface ...