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Results 1 - 10 of 12 for Microphthalmia
  1. MITF gene 
    ... More About This Health Condition homolog of mouse microphthalmia melanogenesis associated transcription factor microphthalmia-associated transcription factor ...
    https://medlineplus.gov/genetics/gene/mitf - Genetics
  2. SOX2 gene 
    ... be absent (anophthalmia) or underdeveloped and abnormally small (microphthalmia). Because both conditions are characterized by impaired eye development, anophthalmia and microphthalmia are often considered to be related disorders (anophthalmia/ ...
    https://medlineplus.gov/genetics/gene/sox2 - Genetics
  3. OTX2 gene 
    ... be absent (anophthalmia) or underdeveloped and abnormally small (microphthalmia). Because both conditions are characterized by impaired eye development, anophthalmia and microphthalmia are often considered to be related disorders (anophthalmia/ ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  4. HCCS gene 
    ... gene mutations have been identified in individuals with microphthalmia with linear skin defects syndrome. Deletions of genetic ... to the eye and skin abnormalities characteristic of microphthalmia with linear skin defects syndrome. More About This ...
    https://medlineplus.gov/genetics/gene/hccs - Genetics
  5. 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
  6. BCOR gene 
    ... Health Condition MedlinePlus Genetics provides information about Anophthalmia/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
  7. 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
  8. ALX1 gene 
    ... B, Akarsu NA. Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of ...
    https://medlineplus.gov/genetics/gene/alx1 - Genetics
  9. PQBP1 gene 
    ... deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. Eur J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/pqbp1 - Genetics
  10. SHH gene 
    ... Health Condition MedlinePlus Genetics provides information about Anophthalmia/Microphthalmia More About This Health Condition HPE3 SHH_HUMAN ...
    https://medlineplus.gov/genetics/gene/shh - Genetics
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