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Results 1 - 6 of 6 for Syndromic microphthalmia type 5
  1. Anophthalmia/microphthalmia-esophageal atresia syndrome 
    ... SOX2 disorder SOX2 syndrome SOX2-related eye disorders Syndromic microphthalmia type 3 Genetic Testing Registry: Anophthalmia/microphthalmia-esophageal atresia ...
    https://medlineplus.gov/...icrophthalmia-esophageal-atresia-syndrome - Genetics
  2. Microphthalmia with linear skin defects syndrome 
    ... Kutsche K. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. Am J Hum Genet. 2006 Nov;79(5):878-89. doi: 10.1086/508474. Epub 2006 ...
    https://medlineplus.gov/...thalmia-with-linear-skin-defects-syndrome - Genetics
  3. Anophthalmia/Microphthalmia 
    ... syndrome that affects multiple parts of the body (syndromic anophthalmia or ... syndrome type 1 or 2, and oculofaciocardiodental syndrome. When people ...
    https://medlineplus.gov/.../condition/anophthalmia-microphthalmia - Genetics
  4. SOX2 gene 
    ... Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic ... hypogonadism. Sex Dev. 2008;2(4-5):194-9. doi: 10.1159/000152035. Epub 2008 ...
    https://medlineplus.gov/genetics/gene/sox2 - Genetics
  5. OTX2 gene 
    ... OTX2. Mol Syndromol. 2013 Sep;4(6):302-5. doi: 10.1159/000353727. Epub 2013 Jul ... Part 1: Non-syndromic anophthalmia/microphthalmia. Hum Genet. 2019 Sep;138(8- ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  6. Nonsyndromic holoprosencephaly 
    ... Isolated HPE Non-syndromic, non-chromosomal holoprosencephaly Non-syndromic, non-chromosomal HPE Nonsyndromic HPE ... Dubourg C, Bendavid C, Pasquier L, ...
    https://medlineplus.gov/.../condition/nonsyndromic-holoprosencephaly - Genetics