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8 results
  1. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... Oculodentodigital dysplasia, autosomal recessive</other_name><other_name >Oculodentodigital syndrome</other_name><other_name >Oculodentodigitalis dysplasia</other_name>< ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... synonym><synonym >Oculodentodigital dysplasia, autosomal recessive</synonym><synonym >Oculodentodigital syndrome</synonym><synonym >Oculodentodigitalis dysplasia</synonym><synonym >Oculodentoosseous dysplasia</ ...
  3. Trichorhinophalangeal Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK425926
    ... nostrils Thickened skin Absence of sparse hair GJA1 Oculodentodigital syndrome (OMIM 164200 & 257850 ) AD AR Slow-growing, dry ...
  4. Excluded Studies - Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299121
    ... GE, Dines MM, et al. Intraoral findings of oculodentodigital dysplasia. ASDC J Dent Child. 1976 Nov-Dec; 43 (6):427–9. X-1. [ PubMed : 824333 ] 255. Williams HJ, Sane SM. Cerebro-costo-mandibular syndrome: long term follow-up of a patient and ...
  5. Resources for Genetics Professionals — Genes with Highly Homologous Gene Family Members or a Pseudogene(s) - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535152
    ... 8 pseudogenes Nonketotic hyperglycinemia <1% GJA1 GJA6P GJA1P1 ... left heart syndrome (OMIM 241550 ) 8 individuals GK GK3P GK6P GK4P ...
  6. Oculodentodigital dysplasia 
    https://medlineplus.gov/.../condition/oculodentodigital-dysplasia
    ... Oculo-dento-digital dysplasia Oculo-dento-osseous dysplasia Oculodentodigital syndrome Oculodentoosseous dysplasia ODD syndrome ODDD ODOD Osseous-oculo- ...
  7. GJA1 gene 
    https://medlineplus.gov/genetics/gene/gja1
    ... of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. J Med Genet. 2004 Jan; ...
  8. PLP1 Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1182
    ... mild or not present [ Wolf et al 2014 ]. Oculodentodigital dysplasia presents sometimes in adulthood, with a SPG- ... Posterior columns may be affected on MRI GJA1 Oculodentodigital dysplasia (OMIM 164200 ) AD Hypomyelination Mild symptoms, sometimes ...