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Results 1 - 8 of 8 for "Microphthalmia," syndromic 11
  1. Microphthalmia with linear skin defects syndrome 
    ... a new mutation in the HCCS gene. MCOPS7 Microphthalmia syndromic 7 Microphthalmia with linear skin lesions syndrome Microphthalmia, dermal aplasia, and sclerocornea Microphthalmia, syndromic 7 MIDAS syndrome MLS syndrome Syndromic microphthalmia-7 ...
    https://medlineplus.gov/...thalmia-with-linear-skin-defects-syndrome - Genetics
  2. Oculofaciocardiodental syndrome 
    ... MCOPS2 Microphthalmia, cataracts, radiculomegaly, and septal heart defects Microphthalmia, syndromic 2 Oculo-facio-cardio-dental syndrome OFCD syndrome ...
    https://medlineplus.gov/.../oculofaciocardiodental-syndrome - Genetics
  3. Anophthalmia/Microphthalmia 
    ... Disorders (NORD) ClinicalTrials.gov MICROPHTHALMIA, ISOLATED 1; MCOP1 MICROPHTHALMIA, SYNDROMIC 1; MCOPS1 PubMed Asai-Coakwell M, French CR, ... Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia. Hum Genet. 2019 Sep;138(8-9):799- ...
    https://medlineplus.gov/.../condition/anophthalmia-microphthalmia - Genetics
  4. Anophthalmia/microphthalmia-esophageal atresia syndrome 
    ... atresia syndrome National Organization for Rare Disorders (NORD) MICROPHTHALMIA, SYNDROMIC 3; MCOPS3 PubMed Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, ... Br J Ophthalmol. 2007 Nov;91(11):1471-6. doi: 10.1136/bjo.2007.117929. ...
    https://medlineplus.gov/...icrophthalmia-esophageal-atresia-syndrome - Genetics
  5. OTX2 gene 
    ... Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia. Hum Genet. 2019 Sep;138(8-9):799- ... OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum Mutat. 2008 Nov;29(11):E278-83. doi: 10.1002/humu.20869. Citation ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  6. SOX2 gene 
    ... 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
  7. Coloboma 
    ... people with coloboma also have a condition called microphthalmia. In this condition, one or both eyeballs are ... remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, ...
    https://medlineplus.gov/genetics/condition/coloboma - Genetics
  8. Nonsyndromic holoprosencephaly 
    ... family. Holoprosencephaly sequence Isolated holoprosencephaly Isolated HPE Non-syndromic, non-chromosomal holoprosencephaly Non-syndromic, non-chromosomal HPE ...
    https://medlineplus.gov/.../condition/nonsyndromic-holoprosencephaly - Genetics