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Isolated microphthalmia 7
- ... MICROPHTHALMIA, ISOLATED 6; MCOP6 MICROPHTHALMIA, ISOLATED 8; MCOP8 MICROPHTHALMIA, ISOLATED 7; MCOP7 MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 MICROPHTHALMIA, ISOLATED 4; ...
- ... gene variants may have anophthalmia or microphthalmia alone (isolated anophthalmia or microphthalmia), or they may have anophthalmia or microphthalmia as ...
- ... with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb;49(2):238- ...
- ... Health Condition MedlinePlus Genetics provides information about Anophthalmia/Microphthalmia More About This Health Condition ... NCBI Gene ClinVar Balasubramanian R, Choi JH, ...
- ... Am J Neuroradiol. 2011 Feb;32(2):230-7. doi: 10.3174/ajnr.A2073. Epub 2010 Apr 1. Citation on PubMed Keogh IJ, Troulis MJ, Monroy AA, Eavey RD, Kaban LB. Isolated microtia as a marker for unsuspected hemifacial microsomia. ...
- ... disorder in their family. Holoprosencephaly sequence ... HOLOPROSENCEPHALY 7; HPE7 HOLOPROSENCEPHALY 9; HPE9 HOLOPROSENCEPHALY 8; HPE8 HOLOPROSENCEPHALY ...
- ... Health Condition MedlinePlus Genetics provides information about ... Variants in the GJA1 gene can cause isolated syndactyly type III, which is characterized by the ...
- ... 154-61. doi: 10.1007/s00439-005-0124-7. Epub 2006 Jan 3. Citation on PubMed ... microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. ...
- ... Health Condition MedlinePlus Genetics provides information about Anophthalmia/Microphthalmia More About This Health Condition MedlinePlus Genetics provides ...
- ... also have other eye abnormalities including small eyes (microphthalmia), a notched or partially absent upper eyelid (upper ... 6 in 1,000 people in a small isolated Ojibway-Cree community in northern Manitoba, Canada. Although ...