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Results 1 - 7 of 7 for "Microphthalmia," isolated 6
  1. Microphthalmia 
    ... MICROPHTHALMIA/COLOBOMA 5; MCOPCB5 MICROPHTHALMIA/COLOBOMA 3; MCOPCB3 MICROPHTHALMIA, ISOLATED 6; MCOP6 MICROPHTHALMIA, ISOLATED 8; MCOP8 MICROPHTHALMIA/COLOBOMA 9; ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  2. SMCHD1 gene 
    ... 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. Citation on PubMed Tawil R, van der ...
    https://medlineplus.gov/genetics/gene/smchd1 - Genetics
  3. Bosma arhinia microphthalmia syndrome 
    ... 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. Citation on PubMed
    https://medlineplus.gov/.../bosma-arhinia-microphthalmia-syndrome - Genetics
  4. Coloboma 
    ... autosomal recessive, or X-linked. Congenital ocular coloboma Microphthalmia, isolated, with coloboma Ocular coloboma Uveoretinal coloboma Genetic Testing ...
    https://medlineplus.gov/genetics/condition/coloboma - Genetics
  5. Manitoba oculotrichoanal syndrome 
    ... syndrome is estimated to occur in 2 to 6 in 1,000 people in a small isolated Ojibway-Cree community in northern Manitoba, Canada. Although ...
    https://medlineplus.gov/.../manitoba-oculotrichoanal-syndrome - Genetics
  6. Nonsyndromic holoprosencephaly 
    ... disorder in their family. Holoprosencephaly sequence Isolated ... HOLOPROSENCEPHALY 6; HPE6 HOLOPROSENCEPHALY 7; HPE7 HOLOPROSENCEPHALY 9; HPE9 HOLOPROSENCEPHALY ...
    https://medlineplus.gov/.../condition/nonsyndromic-holoprosencephaly - Genetics
  7. Craniofacial microsomia 
    ... some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision ... Troulis MJ, Monroy AA, Eavey RD, Kaban LB. Isolated microtia as a marker for unsuspected hemifacial microsomia. ...
    https://medlineplus.gov/genetics/condition/craniofacial-microsomia - Genetics