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Results 1 - 10 of 14 for Ciliary body disorder
  1. Primary ciliary dyskinesia 
    ... Because cilia have many important functions within the body, defects in these cell structures cause a variety of ... RPGR Additional Information ...
    https://medlineplus.gov/.../condition/primary-ciliary-dyskinesia - Genetics
  2. Early-onset glaucoma 
    ... the eye, called the trabecular meshwork and the ciliary body, that regulate the intraocular pressure.Researchers believe that ... this protein is found in the trabecular meshwork, ciliary body, and other structures of the eye.It is ...
    https://medlineplus.gov/genetics/condition/early-onset-glaucoma - Genetics
  3. GNA11 gene 
    ... iris) or in related tissues known as the ciliary body and the choroid (collectively, these tissues are called ...
    https://medlineplus.gov/genetics/gene/gna11 - Genetics
  4. Hypohidrotic ectodermal dysplasia 
    ... dysplasia Hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome X-linked hypohidrotic ectodermal dysplasia National Organization for Rare Disorders (NORD) ClinicalTrials.gov ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/ ...
    https://medlineplus.gov/.../hypohidrotic-ectodermal-dysplasia - Genetics
  5. Heterotaxy syndrome 
    ... K, Robinson B, Knowles MR, Leigh MW; Genetic Disorders of Mucociliary Clearance Consortium. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest. ...
    https://medlineplus.gov/genetics/condition/heterotaxy-syndrome - Genetics
  6. Cold-induced sweating syndrome 
    ... and other abnormalities affecting many parts of the body. In infancy, the features of this condition are often known as Crisponi syndrome. Researchers originally thought that cold-induced sweating syndrome and Crisponi syndrome were separate disorders, but it is now widely believed that they ...
    https://medlineplus.gov/.../condition/cold-induced-sweating-syndrome - Genetics
  7. RPGR gene 
    ... Health Condition MedlinePlus Genetics provides ... with other retinal disorders. These include cone-rod dystrophy (described above), cone ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  8. BBS1 gene 
    ... proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell. 2007 Jun 15;129(6):1201-13. doi: 10.1016/j.cell.2007.03.053. Citation on PubMed
    https://medlineplus.gov/genetics/gene/bbs1 - Genetics
  9. OFD1 gene 
    ... separates the left and right sides of the body). The OFD1 protein is also found in the ... most common form of the disorder. These mutations include changes in single DNA building ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  10. CRLF1 gene 
    ... including unusual sweating patterns and related problems with body temperature ... including distinctive facial features, facial muscle weakness, and ...
    https://medlineplus.gov/genetics/gene/crlf1 - Genetics
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