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171 results
  1. ... ear defects [ Park et al 2016 ]. Table 6. Duane Syndrome: Notable Pathogenic Variants by Gene View in own window Gene 1 Reference Sequences DNA Nucleotide Change Predicted Protein Change Comment [ ...
  2. Learn about eye movement disorders, such as strabismus, where the eyes point in different directions, and nystagmus, which causes rapid eye movements. ...
  3. ... posted live 1 March 2004 (jk) Original submission References Literature Cited Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from ...
  4. ... words: carotid occlusive disease, hypotensive retinopathy, ocular ischemic ... Ch 22 In: Duane TD, Jaeger EA, eds. Clinical Ophthalmology. Vol. 5. ...
  5. ... name >Duane retraction syndrome</other_name><other_name >Duane syndrome</other_name><other_name >Duane's syndrome</other_name><other_name >Ocular retraction syndrome</other_ ...
  6. ... are included in the CCDDs. Other CCDDs include Duane syndrome, Moebius syndrome, and congenital facial palsy. Genetic disorders ... Disorder MOI Clinical Characteristics Chromosome 8 anomalies See Duane syndrome . Duane syndrome w/various assoc congenital abnormalities incl ...
  7. ... 9 Klippel-Feil syndrome w/congenital perceptive deafness & Duane syndrome 10 Affected persons are almost exclusively female. AD = ... Mukherjee [2010] 9. Högen et al [2012] 10. Duane syndrome = abducens palsy with narrowing of the palpebral fissure ...
  8. ... 562...........................................Ocular Motility Disorders C10.292.562.250...........................................Duane Retraction Syndrome C10.292.562.350...........................................Miller Fisher Syndrome C10. ...
  9. ... digital abnormalities, eye abnormalities including glaucoma MAFB AD Duane syndrome : a non-progressive limited horizontal eye movement accompanied ... Detection and Treatment of Genetic Steroid-Resistant Nephrotic Syndrome Resources Chapter Notes References ... Download Bulk download GeneReviews data from FTP ...
  10. ... if Duane anomaly is present (see Differential Diagnosis , Duane-radial ray syndrome and SALL4 -Related Disorders ). (2) Due to the ... triad of thumb, anal, & ear malformations. 3 SALL4 Duane-radial ray syndrome (DRRS, Okihiro syndrome) (See SALL4 -Related Disorders .) AD ...
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