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Results 1 - 8 of 8 for "Microphthalmia," syndromic 1
  1. Anophthalmia/Microphthalmia 
    ... MICROPHTHALMIA, SYNDROMIC 3; MCOPS3 MICROPHTHALMIA, ISOLATED 1; MCOP1 MICROPHTHALMIA, SYNDROMIC 1; MCOPS1 MICROPHTHALMIA, SYNDROMIC 13; MCOPS13 MICROPHTHALMIA, SYNDROMIC 6; ...
    https://medlineplus.gov/.../condition/anophthalmia-microphthalmia - Genetics
  2. SOX2 gene 
    ... Chassaing N, Ragge NK. Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia. Hum Genet. 2019 Sep;138(8-9):799- ...
    https://medlineplus.gov/genetics/gene/sox2 - Genetics
  3. OTX2 gene 
    ... Chassaing N, Ragge NK. Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia. Hum Genet. 2019 Sep;138(8-9):799- ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  4. Microphthalmia with linear skin defects syndrome 
    ... sclerocornea Microphthalmia, syndromic 7 MIDAS syndrome MLS syndrome Syndromic microphthalmia-7 Genetic Testing Registry: Linear skin defects with multiple congenital anomalies 1 Microphthalmia with linear skin defects syndrome National Organization ...
    https://medlineplus.gov/...thalmia-with-linear-skin-defects-syndrome - Genetics
  5. Oculofaciocardiodental syndrome 
    ... Oculofaciocardiodental syndrome National Organization for Rare ... bearing novel de novo BCOR pathogenic variants. BMC Oral Health. 2024 Oct 22;24(1):1264. doi: 10.1186/s12903-024-05005-y. ...
    https://medlineplus.gov/.../oculofaciocardiodental-syndrome - Genetics
  6. Anophthalmia/microphthalmia-esophageal atresia syndrome 
    ... atresia syndrome National Organization for Rare Disorders (NORD) MICROPHTHALMIA, SYNDROMIC 3; MCOPS3 PubMed Bakrania P, Robinson DO, Bunyan ... daughters. Am J Med Genet A. 2008 Nov 1;146A(21):2794-8. doi: 10.1002/ajmg.a.32384. ... DR. Anophthalmia and microphthalmia. Orphanet J Rare Dis. 2007 Nov 26;2: ...
    https://medlineplus.gov/...icrophthalmia-esophageal-atresia-syndrome - Genetics
  7. Nonsyndromic holoprosencephaly 
    ... Isolated HPE Non-syndromic, non-chromosomal holoprosencephaly Non-syndromic, non-chromosomal HPE Nonsyndromic HPE ... HOLOPROSENCEPHALY 1; HPE1 HOLOPROSENCEPHALY 6; HPE6 HOLOPROSENCEPHALY 7; HPE7 HOLOPROSENCEPHALY ...
    https://medlineplus.gov/.../condition/nonsyndromic-holoprosencephaly - Genetics
  8. Coloboma 
    ... These forms of the condition are described as syndromic. When coloboma occurs by ... Coloboma occurs in approximately 1 in 10,000 people. Because coloboma does not ...
    https://medlineplus.gov/genetics/condition/coloboma - Genetics