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Results 1 - 5 of 5 for Joubert syndrome 18
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  1. Joubert syndrome 
    ... JOUBERT SYNDROME 26; JBTS26 JOUBERT SYNDROME 22; JBTS22 JOUBERT SYNDROME 18; JBTS18 NEPHRONOPHTHISIS 14; NPHP14 JOUBERT SYNDROME 14; JBTS14 PubMed Brancati F, Dallapiccola B, ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  2. Polymicrogyria 
    ... Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder. The prevalence of isolated ... DT, Dobyns WB. Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology ... REFERENCE ONLY. 2005 Apr 18 [updated 2018 Aug 16]. In: Adam MP, Feldman ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  3. Nephronophthisis 
    ... at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological ...
    https://medlineplus.gov/genetics/condition/nephronophthisis - Genetics
  4. L1 syndrome 
    ... Mutations in the L1CAM gene. Hum Mutat. 2001;18(1):1-12. doi: 10.1002/humu.1144. Citation on PubMed
    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