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Results 1 - 6 of 6 for Retinal ciliopathy
  1. CEP290 gene 
    ... the brain and spinal cord (central nervous system), retina, and kidneys. Meckel syndrome is typically the most severe of the CEP290-associated ciliopathies; affected individuals usually die before or shortly after ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  2. NPHP1 gene 
    ... features; such conditions are known as nephronophthisis-associated ciliopathies. Senior-Løken syndrome is characterized by the combination of nephronophthisis and breakdown of the retina (retinal degeneration). Joubert syndrome is a multisystem disorder ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  3. IFT140 gene 
    ... cilia and involve bone abnormalities are called skeletal ciliopathies. More About This Health Condition MedlinePlus Genetics provides ... V, Rozet JM. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/ift140 - Genetics
  4. WDR19 gene 
    ... Knappskog PM, Knoers NV, Roepman R, Arts HH. Ciliopathies with skeletal anomalies and renal insufficiency due to ...
    https://medlineplus.gov/genetics/gene/wdr19 - Genetics
  5. IFT122 gene 
    ... Kuss AW. Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am ...
    https://medlineplus.gov/genetics/gene/ift122 - Genetics
  6. WDR35 gene 
    ... WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. ...
    https://medlineplus.gov/genetics/gene/wdr35 - Genetics