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Results 1 - 4 of 4 for "Microphthalmia," "isolated," with coloboma 7
  1. Anophthalmia/Microphthalmia 
    ... Genetic Testing Registry: Anophthalmia Genetic Testing Registry: Microphthalmia Isolated microphthalmia-anophthalmia-coloboma National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/.../condition/anophthalmia-microphthalmia - Genetics
  2. 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
  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. Manitoba oculotrichoanal syndrome 
    ... also have other eye abnormalities including small eyes (microphthalmia), a notched or partially absent upper eyelid (upper eyelid coloboma), eyelids that are attached to the front surface ...
    https://medlineplus.gov/.../manitoba-oculotrichoanal-syndrome - Genetics