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11 results
  1. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... health-condition-summary><health-condition-summary ><name >Bosma arhinia microphthalmia syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/bosma-arhinia-microphthalmia-syndrome</ghr-page><text-list ><text ><text- ...
  2. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic ><url >https://medlineplus.gov/genetics/condition/bosma-arhinia-microphthalmia-syndrome</url><title >Bosma arhinia microphthalmia syndrome</ ...
  3. Facioscapulohumeral Muscular Dystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1443
    ... is also known to be associated with Bosma arhinia microphthalmia syndrome (OMIM 603457 ). Mutation of DNMT3B is ...
  4. Craniofacial Abnormalities 
    https://medlineplus.gov/craniofacialabnormalities.html
    Craniofacial abnormalities (or craniofacial anomalies) are birth defects of the face or head. A common example is cleft lip and palate. Read more. ... Craniofacial is ...
  5. Eye Diseases | Glaucoma | MedlinePlus 
    https://medlineplus.gov/eyediseases.html
    ... syndrome: MedlinePlus Genetics (National Library of Medicine) Bosma arhinia microphthalmia syndrome: MedlinePlus Genetics (National Library of Medicine) ...
  6. Loss of Smell | Loss of Taste | Ageusia | MedlinePlus 
    https://medlineplus.gov/tasteandsmelldisorders.html
    ... and Craniofacial Research) Also in Spanish Genetics Bosma arhinia microphthalmia syndrome: MedlinePlus Genetics (National Library of Medicine) ...
  7. Bosma arhinia microphthalmia syndrome 
    https://medlineplus.gov/.../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 ...
  8. SMCHD1 gene 
    https://medlineplus.gov/genetics/gene/smchd1
    ... gene mutations have been found to cause Bosma arhinia microphthalmia syndrome (BAMS). Individuals with this rare condition have an abnormally small or absent nose (arhinia), unusually small eyes (microphthalmia), and a shortage of ...