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Results 1 - 6 of 6 for Bilateral microphthalmia
  1. HCCS gene 
    ... of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular ...
    https://medlineplus.gov/genetics/gene/hccs - Genetics
  2. Anophthalmia/Microphthalmia 
    ... half of all cases of bilateral anophthalmia or bilateral and severe microphthalmia. Some people who have anophthalmia or microphthalmia have ...
    https://medlineplus.gov/.../condition/anophthalmia-microphthalmia - Genetics
  3. SOX2 gene 
    ... or severe microphthalmia that occurs in both eyes (bilateral). Many of the variants that cause anophthalmia and severe microphthalmia are known as "loss-of-function variants" because ...
    https://medlineplus.gov/genetics/gene/sox2 - Genetics
  4. Peters anomaly 
    ... of the lens (cataract), and unusually small eyeballs (microphthalmia). In most cases, Peters anomaly is bilateral, which means that it affects both eyes, although ...
    https://medlineplus.gov/genetics/condition/peters-anomaly - Genetics
  5. PAX6 gene 
    ... Tests of PAX6 PubMed COLOBOMA OF OPTIC NERVE MICROPHTHALMIA/COLOBOMA 12; MCOPCB12 ECTOPIA PUPILLAE FOVEAL HYPOPLASIA 1; FVH1 KERATITIS, HEREDITARY OPTIC NERVE HYPOPLASIA, BILATERAL CATARACT 9, MULTIPLE TYPES; CTRCT9 PAIRED BOX GENE ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
  6. Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 
    ... O. Rere controls retinoic acid signalling and somite bilateral symmetry. Nature. 2010 Feb 18;463(7283):953- ...
    https://medlineplus.gov/...thout-anomalies-of-the-brain-eye-or-heart - Genetics