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Results 1 - 10 of 46 for Eye Manifestations
  1. Norrie disease 
    ... Sims KB, Rehm HL. Norrie disease: extraocular clinical manifestations in 56 patients. Am J Med Genet A. 2012 Aug;158A(8):1909-17. doi: 10.1002/ajmg.a.35469. Epub 2012 Jul 11. Citation on PubMed Wang Z, Liu CH, Huang S, Chen J. Wnt Signaling in vascular eye diseases. Prog Retin Eye Res. 2019 May;70: ...
    https://medlineplus.gov/genetics/condition/norrie-disease - Genetics
  2. Nephronophthisis 
    ... light-sensitive tissue at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of ... light-sensitive tissue at the back of the eye (the retina).The genetic mutations involved in nephronophthisis ...
    https://medlineplus.gov/genetics/condition/nephronophthisis - Genetics
  3. Oculodentodigital dysplasia 
    ... MJ. Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance. ... K, Evers S, Oelerich M, Stogbauer F. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol. 2002 ...
    https://medlineplus.gov/.../condition/oculodentodigital-dysplasia - Genetics
  4. Stickler syndrome 
    ... Robin N. Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation. J Pers Med. 2020 ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  5. Lacrimo-auriculo-dento-digital syndrome 
    ... Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations. Cleft Palate Craniofac J. 2004 Sep;41(5): ...
    https://medlineplus.gov/.../lacrimo-auriculo-dento-digital-syndrome - Genetics
  6. Camurati-Engelmann disease 
    ... Neff BA, Link MJ, Driscoll CL. Skull base manifestations of Camurati-Engelmann disease. Arch Otolaryngol Head Neck ... WJ, Choi IH, Kim OH, Cho TJ. Orthopedic Manifestations of Type I Camurati-Engelmann Disease. Clin Orthop ...
    https://medlineplus.gov/.../condition/camurati-engelmann-disease - Genetics
  7. Cardiofaciocutaneous syndrome 
    ... of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A. ... 00894.x. Citation on PubMed Zenker M. Clinical manifestations of mutations in RAS and related intracellular signal ...
    https://medlineplus.gov/.../condition/cardiofaciocutaneous-syndrome - Genetics
  8. Sandhoff disease 
    ... Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases. ... N, Wattanasirichaigoon D. Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients. ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
  9. Blepharophimosis, ptosis, and epicanthus inversus syndrome 
    ... PA. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical manifestation and treatment. Int Ophthalmol Clin. 2008 Spring;48( ...
    https://medlineplus.gov/...s-ptosis-and-epicanthus-inversus-syndrome - Genetics
  10. Behçet disease 
    ... Fresko I, Yurdakul S. Behcet's syndrome: disease manifestations, management, and advances in treatment. Nat Clin Pract ...
    https://medlineplus.gov/genetics/condition/behcet-disease - Genetics
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