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11 results
  1. ... leukocyte defect, see Chediak-Higashi syndrome Oculodentodigital dysplasia Oculodentodigital syndrome, see Oculodentodigital dysplasia Oculodentoosseous dysplasia, see Oculodentodigital dysplasia ...
  2. ... Oculo-dento-digital dysplasia Oculo-dento-osseous dysplasia Oculodentodigital syndrome Oculodentoosseous dysplasia ODD syndrome ODDD ODOD Osseous-oculo- ...
  3. ... Oculo-dento-osseous dysplasia</other_name><other_name >Oculodentodigital syndrome</other_name><other_name >Oculodentoosseous dysplasia</other_name>< ...
  4. ... of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. J Med Genet. 2004 Jan; ...
  5. ... nostrils Thickened skin Absence of sparse hair GJA1 Oculodentodigital syndrome (OMIM 164200 & 257850 ) AD AR Slow-growing, dry ...
  6. ... synonym><synonym >Oculo-dento-osseous dysplasia</synonym><synonym >Oculodentodigital syndrome</synonym><synonym >Oculodentoosseous dysplasia</synonym><synonym >ODD syndrome</ ...
  7. ... 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 ...
  8. ... 8 pseudogenes Nonketotic hyperglycinemia <1% GJA1 GJA6P GJA1P1 ... left heart syndrome (OMIM 241550 ) 8 individuals GK GK3P GK6P GK4P ...
  9. ... 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 ...