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Results 1 - 7 of 7 for Isolated microphthalmia 5
  1. 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
  2. Anophthalmia/Microphthalmia 
    ... Genetic Testing Registry: Anophthalmia Genetic Testing Registry: Microphthalmia Isolated microphthalmia-anophthalmia-coloboma National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/.../condition/anophthalmia-microphthalmia - Genetics
  3. OTX2 gene 
    ... gene variants may have anophthalmia or microphthalmia alone (isolated anophthalmia or microphthalmia), or they may have anophthalmia or microphthalmia as ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  4. 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- ...
    https://medlineplus.gov/.../bosma-arhinia-microphthalmia-syndrome - Genetics
  5. SMCHD1 gene 
    ... with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb;49(2):238- ...
    https://medlineplus.gov/genetics/gene/smchd1 - Genetics
  6. Nonsyndromic holoprosencephaly 
    ... disorder in their family. Holoprosencephaly sequence Isolated holoprosencephaly ... Dubourg C, Bendavid C, Pasquier L, ...
    https://medlineplus.gov/.../condition/nonsyndromic-holoprosencephaly - Genetics
  7. Craniofacial microsomia 
    ... 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