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Results 1 - 8 of 8 for "Microphthalmia," isolated 5
  1. Microphthalmia 
    ... MICROPHTHALMIA, ISOLATED 2; MCOP2 MICROPHTHALMIA, SYNDROMIC 16; MCOPS16 MICROPHTHALMIA, ISOLATED 5; MCOP5 MICROPHTHALMIA/COLOBOMA 5; MCOPCB5 MICROPHTHALMIA/COLOBOMA 3; ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  2. 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
  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- ...
    https://medlineplus.gov/.../bosma-arhinia-microphthalmia-syndrome - Genetics
  4. 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
  5. Facts about Microcephaly (Centers for Disease Control and Prevention)  
    Brain Malformations/Specifics ... Brain Malformations ... Centers for Disease Control and Prevention ... Microcephaly is a birth defect where a baby’s head is smaller ...
    https://www.cdc.gov/ncbddd/birthdefects/microcephaly.html - External Health Links
  6. Eye Diseases (National Library of Medicine)  
    Some eye problems are minor and don't last long. But some can lead to a permanent loss of vision. Common eye problems include: Refractive errors Cataracts - ...
    https://medlineplus.gov/eyediseases.html - Health Topics
  7. Nonsyndromic holoprosencephaly 
    ... disorder in their family. Holoprosencephaly sequence Isolated holoprosencephaly ... Dubourg C, Bendavid C, Pasquier L, ...
    https://medlineplus.gov/.../condition/nonsyndromic-holoprosencephaly - Genetics
  8. 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