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19 results
  1. Oral-facial-digital syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome
    ... Testing Registry: Orofaciodigital syndrome I Genetic Testing Registry: Orofaciodigital syndrome type 6 Genetic Testing Registry: Orofaciodigital syndrome V Genetic ...
  2. 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 ( ...
  3. 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. ...
  4. 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 ...
  5. 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 ...
  6. 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 ...
  7. 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 ...
  8. Genetic Conditions: O 
    https://medlineplus.gov/genetics/condition-o
    ... syndrome Orodigitofacial syndrome, see Oral-facial-digital syndrome Orofaciodigital syndrome, see Oral-facial-digital syndrome Orthostatic hypotension OSA, ...
  9. 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 ... Hyperglycinemia Fumaric aciduria 1 OMIM 136850 Glutaric acidemia type II Multiple Acyl-CoA Dehydrogenase Deficiency Histidinemia OMIM ...
  10. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... Orodigitofacial dysostosis</synonym><synonym >Orodigitofacial syndrome</synonym><synonym >Orofaciodigital syndrome</synonym></synonym-list><db-key-list ><db-key >< ...
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