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19 results
  1. Oral-Facial-Digital Syndrome Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1188
    ... Faivre L, Sagot P, Nivelon-Chevallier A. Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly. Prenat Diagn. 2001; 21 :466–70. [ ...
  2. Greig Cephalopolysyndactyly Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1446
    ... et al [2001] 3. Oral-facial-digital syndrome type 1 is caused by pathogenic variants in OFD1 ; see Phenotypic Series: Orofaciodigital syndrome for other genes associated with this phenotype in OMIM. Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  3. Oral-facial-digital syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome
    ... but they typically do not show signs and symptoms of the condition. Other Names for ... Genetic Testing Registry: Orofaciodigital syndrome V Genetic ...
  4. Excluded Studies - Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299121
    ... Hoffman LA, et al. Midline defects of the orofaciodigital syndrome type VI (Varadi syndrome). Cleft Palate Craniofac J. 1994 ... analysis and genetic study of two sisters with orofaciodigital syndrome type I. Cleft Palate Craniofac J. 2007 Nov; 44 ( ...
  5. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... disease is the more severe of the two types. Symptoms can begin in infancy and include problems with ... distinguished by the severity of their signs and symptoms. Type A, which has been identified mostly in people ...
  6. OFD1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ofd1
    ... the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Hum ...
  7. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... of Jadassohn Oculocerebrorenal Syndrome Oculocerebrorenal Syndrome Orofaciodigital ... 450 Type New Tree C16.131.077.717.510 MeSH ...
  8. NLM Digital Collections - MEDLARS indexing : integrated authority file 
    Publication: [Bethesda, Md.] : National Library of Medicine, Bibliographic Services Division, 1968
    resource.nlm.nih.gov/0226726
    ... NIM) (68) diagnosl di natura (It) m differential diagnosis of the type or classification rather than of the site a ... an acute, subacute, or chronic form differing in type and intensity of signs, symptoms, and response to therapy (Ann Intern Med 68: ...
  9. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... Hierarchy Tree location C05.116.099.370.652...........................................Orofaciodigital Syndromes C05.116.099.370.797...........................................Rubinstein-Taybi Syndrome ...
  10. Polymicrogyria Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1329
    ... x Frontal and parietal PMG Joubert syndrome (XLR); orofaciodigital syndrome 1 (XLD) XL Joubert Syndrome PAX6 x Variable ... of prognosis and genetic counseling . Confirming the Clinical Diagnosis Confirming PMG as the underlying cortical malformation and ...
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