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Results 1 - 7 of 7 for "Microphthalmia," "isolated," with coloboma 5
  1. Anophthalmia/Microphthalmia 
    ... Anophthalmia Genetic Testing Registry: Microphthalmia ... SYNDROMIC 5; MCOPS5 MICROPHTHALMIA, SYNDROMIC 10; MCOPS10 MICROPHTHALMIA, SYNDROMIC 16; ...
    https://medlineplus.gov/.../condition/anophthalmia-microphthalmia - Genetics
  2. Coloboma 
    ... autosomal recessive, or X-linked. Congenital ocular coloboma Microphthalmia, isolated, with coloboma Ocular coloboma Uveoretinal coloboma Genetic Testing Registry: Congenital ...
    https://medlineplus.gov/genetics/condition/coloboma - Genetics
  3. OTX2 gene 
    ... gene variants may have anophthalmia or microphthalmia alone (isolated ... intellectual disabilities, and abnormalities of the pituitary gland. ...
    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. Eye Diseases (National Library of Medicine)  
    What diseases can affect the eye? Even if your eyes feel healthy, you could have a problem and not know it. That's why regular eye exams are so important. ...
    https://medlineplus.gov/eyediseases.html - Health Topics
  6. SALL4 gene 
    ... Health Condition MedlinePlus Genetics provides information about Anophthalmia/Microphthalmia More About This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition A least one ...
    https://medlineplus.gov/genetics/gene/sall4 - Genetics
  7. CHD7 gene 
    ... Health Condition MedlinePlus Genetics provides information about Anophthalmia/Microphthalmia More About This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition CHD7_HUMAN FLJ20357 ...
    https://medlineplus.gov/genetics/gene/chd7 - Genetics