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Results 1 - 10 of 42 for microphthalmia
  1. Microphthalmia with linear skin defects syndrome 
    Microphthalmia with linear skin defects syndrome is a disorder that mainly affects females. In people with this condition, one or both eyes may be very small or poorly ...
    https://medlineplus.gov/...thalmia-with-linear-skin-defects-syndrome - Genetics
  2. Bosma arhinia microphthalmia syndrome 
    Bosma arhinia microphthalmia syndrome (BAMS) is a rare condition characterized by abnormalities of the nose and eyes and problems with puberty.The key feature ...
    https://medlineplus.gov/.../bosma-arhinia-microphthalmia-syndrome - Genetics
  3. Microphthalmia 
    Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  4. Oculofaciocardiodental syndrome 
    ... are born with eyeballs that are abnormally small (microphthalmia). Other eye problems can include clouding of the ... no males are born with OFCD syndrome. MCOPS2 Microphthalmia, cataracts, radiculomegaly, and septal heart defects Microphthalmia, syndromic ...
    https://medlineplus.gov/.../oculofaciocardiodental-syndrome - Genetics
  5. 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
  6. 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
  7. SOX2 anophthalmia syndrome 
    ... eyeballs (anophthalmia), although some individuals have small eyes (microphthalmia). The term anophthalmia is often used interchangeably with severe microphthalmia because individuals with no visible eyeballs typically have ...
    https://medlineplus.gov/.../condition/sox2-anophthalmia-syndrome - Genetics
  8. Ophthalmo-acromelic syndrome 
    ... underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected in this ... Anophthalmos with limb anomalies Anophthalmos-limb anomalies syndrome Microphthalmia with limb anomalies OAS Ophthalmoacromelic syndrome Syndactyly-anophthalmos ...
    https://medlineplus.gov/.../condition/ophthalmo-acromelic-syndrome - Genetics
  9. X chromosome 
    ... region of the X chromosome called Xp22 causes microphthalmia with linear skin defects syndrome. This condition is characterized by small or poorly developed eyes (microphthalmia) and unusual linear skin markings on the head ...
    https://medlineplus.gov/genetics/chromosome/x - Genetics
  10. 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
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