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Results 1 - 5 of 5 for Nephronophthisis 20
  1. NPHP1 gene 
    ... Type 1 is the most common type of nephronophthisis, accounting for approximately 20 percent of cases of the disorder. Nephronophthisis is characterized by inflammation and scarring of the ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  2. Joubert syndrome 
    ... JOUBERT SYNDROME 22; JBTS22 JOUBERT SYNDROME 18; JBTS18 NEPHRONOPHTHISIS 14; NPHP14 JOUBERT SYNDROME 14; JBTS14 PubMed Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Citation ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  3. Mainzer-Saldino syndrome 
    ... J Med Genet A. 2007 Oct 15;143A(20):2444-7. doi: 10.1002/ajmg.a.31948. Citation on PubMed Mortellaro C, Bello L, Pucci A, Lucchina AG, Migliario M. Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses. J Craniofac ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  4. Senior-Løken syndrome 
    ... of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.Nephronophthisis causes fluid-filled cysts to develop in the ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  5. WDR19 gene 
    ... of other problems, including a kidney condition called nephronophthisis and eye abnormalities.The WDR19 gene mutations involved ... This Health Condition MedlinePlus Genetics provides information about Nephronophthisis More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/wdr19 - Genetics