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Results 11 - 20 of 42 for Microphthalmia
  1. SMCHD1 gene 
    ... mutations have been found to cause Bosma arhinia microphthalmia syndrome (BAMS). Individuals with this rare condition have ... small or absent nose (arhinia), unusually small eyes (microphthalmia), and a shortage of certain hormones that direct ...
    https://medlineplus.gov/genetics/gene/smchd1 - Genetics
  2. BCOR gene 
    ... This Health Condition MedlinePlus Genetics provides information about Microphthalmia More About This Health Condition BCL-6 interacting ... facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Eur J Hum Genet. 2005 May;13( ...
    https://medlineplus.gov/genetics/gene/bcor - Genetics
  3. Frontonasal dysplasia 
    ... eyes that are missing (anophthalmia) or very small (microphthalmia) and low-set ears that are rotated backward. ... Frontonasal dysplasia Genetic Testing Registry: Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome Genetic Testing Registry: Frontonasal ...
    https://medlineplus.gov/genetics/condition/frontonasal-dysplasia - Genetics
  4. PAX6 gene 
    ... one copy of the PAX6 gene can cause microphthalmia, which describes eyes that are smaller than usual. ... role as a transcription factor.In addition to microphthalmia or coloboma (described above), individuals with these relatively ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
  5. SOX2 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Microphthalmia More About This Health Condition ANOP3 MCOPS3 MGC2413 ... SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. Mol Vis. 2008 Mar 24;14:583-92. ...
    https://medlineplus.gov/genetics/gene/sox2 - Genetics
  6. RAB18 deficiency 
    ... lenses of the eyes (cataracts), abnormally small eyes (microphthalmia), and small corneas (microcornea). The lens is a ... less severe. Individuals with Martsolf syndrome have cataracts, microphthalmia, and small pupils. They have milder optic atrophy ...
    https://medlineplus.gov/genetics/condition/rab18-deficiency - Genetics
  7. OTX2 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Microphthalmia More About This Health Condition homeobox protein OTX2 ... OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum Mutat. 2008 Nov;29(11): ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  8. CHARGE syndrome 
    ... individuals also have abnormally small or underdeveloped eyes (microphthalmia). In many people with CHARGE syndrome, one or ...
    https://medlineplus.gov/genetics/condition/charge-syndrome - Genetics
  9. Oculodentodigital dysplasia 
    ... eye problems can include underdeveloped and small eyes (microphthalmia) and clouding of the lenses of the eyes ( ...
    https://medlineplus.gov/.../condition/oculodentodigital-dysplasia - Genetics
  10. Branchio-oculo-facial syndrome 
    ... vision impairment. These abnormalities include unusually small eyeballs (microphthalmia), no eyeballs (anophthalmia), a gap or split in ...
    https://medlineplus.gov/.../condition/branchio-oculo-facial-syndrome - Genetics
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