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13 results
  1. Craniofrontonasal syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/craniofrontonasal-syndrome
    ... syndrome. Learn more about the gene associated with Craniofrontonasal syndrome EFNB1 Inheritance Craniofrontonasal syndrome is inherited in an ...
  2. EFNB1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/efnb1
    ... synaptic plasticity). Health Conditions Related to Genetic Changes Craniofrontonasal syndrome More than 115 mutations in the EFNB1 gene have been found to cause craniofrontonasal syndrome. This rare condition is characterized by the premature ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Craniofrontonasal syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  4. Genetic Conditions: C 
    https://medlineplus.gov/genetics/condition-c
    ... extraocular muscles CFM, see Craniofacial microsomia CFND, see Craniofrontonasal syndrome CFNS, see Craniofrontonasal syndrome CFSMR, see Cerebro-facio- ...
  5. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/craniofrontonasal-syndrome</url><title >Craniofrontonasal syndrome</title><other_names ><other_ ...
  6. 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 ...
  7. Donnai-Barrow Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1878
    ... nephrocalcinosis, & nephrolithiasis Rickets Congenital or acquired cataracts, & glaucoma Craniofrontonasal syndrome (OMIM 304110 ) EFNB1 XL Congenital diaphragmatic hernia Widely ...
  8. Greig Cephalopolysyndactyly Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1446
    ... Gene(s) Disorder MOI Clinical Features Comment EFNB1 Craniofrontonasal dysplasia (OMIM 304110 ) XL 1 In females: frontonasal dysplasia, ... the thoracic skeleton In males: widely spaced eyes Craniofrontonasal dysplasia facial features in females are similar to those ...