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"Microphthalmia," "isolated," with coloboma 6
- ... ISOLATED 8; MCOP8 MICROPHTHALMIA/COLOBOMA 9; MCOPCB9 MICROPHTHALMIA/COLOBOMA 6; MCOPCB6 MICROPHTHALMIA, ISOLATED 7; MCOP7 MICROPHTHALMIA, ISOLATED 4; MCOP4 PubMed Asai- ...
- ... autosomal recessive, or X-linked. Congenital ocular coloboma Microphthalmia, isolated, with coloboma Ocular coloboma Uveoretinal coloboma Genetic Testing Registry: Congenital ...
- ... 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 In: Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969c. Citation on ...
- ... 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 ...