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Results 1 - 5 of 5 for Joubert syndrome 1
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  1. Joubert syndrome 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov JOUBERT SYNDROME 1; JBTS1 JOUBERT SYNDROME 10; JBTS10 JOUBERT SYNDROME 2; JBTS2 JOUBERT ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  2. Nephronophthisis 
    ... at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological problems and other features, which can include nephronophthisis. Nephronophthisis is found in populations worldwide. It occurs in an estimated 1 in 50,000 newborns in Canada, 1 in ...
    https://medlineplus.gov/genetics/condition/nephronophthisis - Genetics
  3. Polymicrogyria 
    ... Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder. The prevalence of isolated ... Andermann F. Familial perisylvian polymicrogyria: a new familial syndrome of ... 2000 Jul;48(1):39-48. Citation on PubMed Guerrini R, Barkovich ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  4. L1 syndrome 
    ... stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.HSAS ... is unknown; however, HSAS is estimated to affect 1 in 30,000 males. L1 syndrome is caused by mutations in the L1CAM gene. ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics
  5. Renal tubular dysgenesis 
    ... condition. Allanson Pantzar McLeod syndrome Primitive renal tubule syndrome ... JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC. Mutations in genes ...
    https://medlineplus.gov/genetics/condition/renal-tubular-dysgenesis - Genetics